Canonical Allele Identifier: CA639408341

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40346510T>C , CM000684.2:g.40346510T>C	GRCh38
NC_000022.10:g.40742514T>C , CM000684.1:g.40742514T>C	GRCh37
NC_000022.9:g.39072460T>C	NCBI36
NG_007993.1:g.5011T>C
NG_007993.2:g.5011T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000026.4:c.-49T>C MANE Select	NP_000017.1:n.-49T>C
ENST00000623063.3:c.-49T>C MANE Select	ENSP00000485525.1:n.-49T>C
NM_000026.2:c.-49T>C	NP_000017.1:n.-49T>C
NM_000026.3:c.-49T>C	NP_000017.1:n.-49T>C
NM_001123378.1:c.-49T>C	NP_001116850.1:n.-49T>C
NM_001123378.2:c.-49T>C	NP_001116850.1:n.-49T>C
NM_001123378.3:c.-49T>C	NP_001116850.1:n.-49T>C
NM_001317923.1:c.-186T>C	NP_001304852.1:n.-186T>C
NM_001317923.2:c.-186T>C	NP_001304852.1:n.-186T>C
NM_001363840.1:c.-49T>C	NP_001350769.1:n.-49T>C
NM_001363840.2:c.-49T>C	NP_001350769.1:n.-49T>C
NM_001363840.3:c.-49T>C	NP_001350769.1:n.-49T>C
NR_134256.1:n.11T>C
NR_134256.2:n.11T>C
ENST00000342312.9:c.-49T>C	ENSP00000341429.6:n.-49T>C
ENST00000623632.3:c.-49T>C	ENSP00000485288.1:n.-49T>C
ENST00000623632.4:c.-49T>C	ENSP00000485288.2:n.-49T>C
ENST00000625194.4:c.-49T>C	ENSP00000485289.2:n.-49T>C
ENST00000637666.2:c.-49T>C	ENSP00000489696.2:n.-49T>C
ENST00000679723.1:c.-49T>C	ENSP00000505155.1:n.-49T>C
ENST00000680978.1:c.-49T>C	ENSP00000505244.1:n.-49T>C
ENST00000681159.1:n.11T>C
XM_011529976.1:c.-49T>C	XP_011528278.1:n.-49T>C
XM_011529977.1:c.-49T>C	XP_011528279.1:n.-49T>C
XM_011529977.3:c.-49T>C	XP_011528279.1:n.-49T>C
XM_011529978.1:c.-49T>C	XP_011528280.1:n.-49T>C
XM_011529979.1:c.-49T>C	XP_011528281.1:n.-49T>C
XM_011529980.1:c.-49T>C	XP_011528282.1:n.-49T>C
XM_011529980.3:c.-49T>C	XP_011528282.1:n.-49T>C
XR_001755176.2:n.9T>C
XR_002958671.1:n.9T>C
XR_937824.1:n.11T>C
XR_937825.1:n.11T>C
XR_937825.3:n.9T>C
XR_937826.1:n.11T>C