Canonical Allele Identifier: CA446330364

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721156G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385464G>C , CM000667.2:g.132385464G>C	GRCh38
NC_000005.9:g.131721156G>C , CM000667.1:g.131721156G>C	GRCh37
NC_000005.8:g.131749055G>C	NCBI36
NG_008982.1:g.20756G>C
NG_008982.2:g.20761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1150G>C	ENSP00000388838.2:n.665+1150G>C
ENST00000435065.7:c.861G>C	ENSP00000402760.2:p.Leu287=
ENST00000448810.6:c.789G>C	ENSP00000401860.2:p.Leu263=
ENST00000686757.1:c.808G>C	ENSP00000510721.1:p.Asp270His
ENST00000687740.1:n.1949G>C
ENST00000688151.1:n.1981G>C
ENST00000689271.1:c.671+1144G>C	ENSP00000510797.1:n.671+1144G>C
ENST00000690900.1:c.760G>C	ENSP00000510703.1:p.Asp254His
ENST00000692212.1:n.615G>C
ENST00000692355.1:c.204+1163G>C
ENST00000692413.1:c.808G>C	ENSP00000509374.1:p.Asp270His
ENST00000692825.1:c.857G>C	ENSP00000509447.1:n.857G>C
ENST00000693308.1:c.802G>C	ENSP00000509770.1:p.Asp268His
ENST00000693763.1:n.1949G>C
ENST00000245407.8:c.789G>C MANE Select	ENSP00000245407.3:p.Leu263=
ENST00000245407.7:c.789G>C	ENSP00000245407.3:p.Leu263=
ENST00000415928.5:c.558G>C	ENSP00000388838.1:p.Leu186=
ENST00000435065.6:c.861G>C	ENSP00000402760.2:p.Leu287=
ENST00000437841.6:c.*104G>C	ENSP00000400553.1:n.*104G>C
ENST00000448810.5:c.137G>C
ENST00000461013.5:n.8211G>C
NM_001308122.1:c.861G>C	NP_001295051.1:p.Leu287=
NM_003060.3:c.789G>C	NP_003051.1:p.Leu263=
XM_011543590.1:c.171G>C	XP_011541892.1:p.Leu57=
XR_427718.1:n.1149G>C
XR_948290.1:n.1130G>C
XR_948291.1:n.1143G>C
XM_011543590.2:c.171G>C	XP_011541892.1:p.Leu57=
XM_017009778.2:c.261G>C	XP_016865267.1:p.Leu87=
XR_001742215.1:n.1130G>C
XR_001742216.1:n.1149G>C
XR_427718.2:n.1149G>C
XR_948290.2:n.1130G>C
XR_948291.2:n.1143G>C
NM_003060.4:c.789G>C MANE Select	NP_003051.1:p.Leu263=
NM_001308122.2:c.861G>C	NP_001295051.1:p.Leu287=