Canonical Allele Identifier: CA411648193

Gene: ADSL

Linked Data

• dbSNP Id: rs2044944376
• MyVariant Identifiers: chr22:g.40760976G>C (hg19) ; chr22:g.40364972G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364972G>C , CM000684.2:g.40364972G>C	GRCh38
NC_000022.10:g.40760976G>C , CM000684.1:g.40760976G>C	GRCh37
NC_000022.9:g.39090922G>C	NCBI36
NG_007993.1:g.23473G>C
NG_007993.2:g.23473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*678G>C	ENSP00000485462.2:n.*678G>C
ENST00000623287.4:c.*709G>C	ENSP00000485437.1:n.*709G>C
ENST00000623632.4:c.975G>C	ENSP00000485288.2:p.Gln325His
ENST00000625194.4:c.1326G>C	ENSP00000485289.2:p.Gln442His
ENST00000636433.1:n.1306G>C
ENST00000636714.1:c.1284G>C	ENSP00000490946.1:p.Gln428His
ENST00000637666.2:c.1191+607G>C	ENSP00000489696.2:n.1191+607G>C
ENST00000637669.1:c.1284G>C	ENSP00000489728.1:p.Gln428His
ENST00000639722.1:c.*980G>C	ENSP00000492828.1:n.*980G>C
ENST00000674592.1:n.2798G>C
ENST00000675622.1:n.4351G>C
ENST00000679609.1:c.*894G>C	ENSP00000506592.1:n.*894G>C
ENST00000679656.1:n.1969G>C
ENST00000679723.1:c.1239G>C	ENSP00000505155.1:p.Gln413His
ENST00000679845.1:n.1592G>C
ENST00000679904.1:n.1680G>C
ENST00000680378.1:c.1371G>C	ENSP00000505556.1:p.Gln457His
ENST00000680444.1:c.*647G>C	ENSP00000505298.1:n.*647G>C
ENST00000680978.1:c.1284G>C	ENSP00000505244.1:p.Gln428His
ENST00000681003.1:n.747G>C
ENST00000681159.1:n.2688G>C
ENST00000216194.11:c.1326G>C	ENSP00000216194.8:p.Gln442His
ENST00000342312.9:c.1191+607G>C	ENSP00000341429.6:n.1191+607G>C
ENST00000423176.6:c.11G>C
ENST00000623063.3:c.1284G>C MANE Select	ENSP00000485525.1:p.Gln428His
ENST00000623387.1:n.415G>C
ENST00000623869.3:c.15G>C	ENSP00000485211.1:p.Gln5His
ENST00000624027.1:c.11G>C
ENST00000625194.3:c.913G>C
NM_000026.2:c.1284G>C	NP_000017.1:p.Gln428His
NM_001123378.1:c.1191+607G>C	NP_001116850.1:n.1191+607G>C
XM_011529976.1:c.1284G>C	XP_011528278.1:p.Gln428His
XM_011529977.1:c.1284G>C	XP_011528279.1:p.Gln428His
XM_011529978.1:c.1191+607G>C	XP_011528280.1:n.1191+607G>C
XM_011529979.1:c.1284G>C	XP_011528281.1:p.Gln428His
XM_011529980.1:c.1191+607G>C	XP_011528282.1:n.1191+607G>C
XM_011529981.1:c.819G>C	XP_011528283.1:p.Gln273His
XM_011529982.1:c.453G>C	XP_011528284.1:p.Gln151His
XR_937824.1:n.1374G>C
XR_937825.1:n.1281+607G>C
NM_000026.3:c.1284G>C	NP_000017.1:p.Gln428His
NM_001123378.2:c.1191+607G>C	NP_001116850.1:n.1191+607G>C
NM_001317923.1:c.1092G>C	NP_001304852.1:p.Gln364His
NM_001363840.1:c.1284G>C	NP_001350769.1:p.Gln428His
NR_134256.1:n.1374G>C
XM_011529977.3:c.1284G>C	XP_011528279.1:p.Gln428His
XM_011529980.3:c.1191+607G>C	XP_011528282.1:n.1191+607G>C
XM_017028636.1:c.1239G>C	XP_016884125.1:p.Gln413His
XM_017028637.1:c.1239G>C	XP_016884126.1:p.Gln413His
XM_017028638.1:c.819G>C	XP_016884127.1:p.Gln273His
XM_017028639.2:c.819G>C	XP_016884128.1:p.Gln273His
XM_017028640.1:c.453G>C	XP_016884129.1:p.Gln151His
XM_024452166.1:c.1146+607G>C	XP_024307934.1:n.1146+607G>C
XR_001755176.2:n.1526G>C
XR_002958670.1:n.1311G>C
XR_937825.3:n.1279+607G>C
NM_000026.4:c.1284G>C MANE Select	NP_000017.1:p.Gln428His
NM_001363840.2:c.1284G>C	NP_001350769.1:p.Gln428His
NM_001123378.3:c.1191+607G>C	NP_001116850.1:n.1191+607G>C
NM_001317923.2:c.1092G>C	NP_001304852.1:p.Gln364His
NM_001363840.3:c.1284G>C	NP_001350769.1:p.Gln428His
NR_134256.2:n.1374G>C