Canonical Allele Identifier: CA3403976

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707682
• ClinVar RCV Id: RCV002286661
• dbSNP Id: rs775430253
• ExAC: 5:131721167 G / C
• gnomAD v2: 5-131721167-G-C
• gnomAD v3: 5-132385475-G-C
• gnomAD v4: 5-132385475-G-C
• MyVariant Identifiers: chr5:g.131721167G>C (hg19) ; chr5:g.132385475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385475G>C , CM000667.2:g.132385475G>C	GRCh38
NC_000005.9:g.131721167G>C , CM000667.1:g.131721167G>C	GRCh37
NC_000005.8:g.131749066G>C	NCBI36
NG_008982.1:g.20767G>C
NG_008982.2:g.20772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1161G>C	ENSP00000388838.2:n.665+1161G>C
ENST00000435065.7:c.872G>C	ENSP00000402760.2:p.Gly291Ala
ENST00000448810.6:c.800G>C	ENSP00000401860.2:p.Gly267Ala
ENST00000686757.1:c.819G>C	ENSP00000510721.1:p.Gly273=
ENST00000687740.1:n.1960G>C
ENST00000688151.1:n.1992G>C
ENST00000689271.1:c.671+1155G>C	ENSP00000510797.1:n.671+1155G>C
ENST00000690900.1:c.771G>C	ENSP00000510703.1:p.Gly257=
ENST00000692212.1:n.626G>C
ENST00000692355.1:c.204+1174G>C
ENST00000692413.1:c.819G>C	ENSP00000509374.1:p.Gly273=
ENST00000692825.1:c.868G>C	ENSP00000509447.1:n.868G>C
ENST00000693308.1:c.813G>C	ENSP00000509770.1:p.Gly271=
ENST00000693763.1:n.1960G>C
ENST00000245407.8:c.800G>C MANE Select	ENSP00000245407.3:p.Gly267Ala
ENST00000245407.7:c.800G>C	ENSP00000245407.3:p.Gly267Ala
ENST00000415928.5:c.569G>C	ENSP00000388838.1:p.Gly190Ala
ENST00000435065.6:c.872G>C	ENSP00000402760.2:p.Gly291Ala
ENST00000437841.6:c.*115G>C	ENSP00000400553.1:n.*115G>C
ENST00000448810.5:c.148G>C
ENST00000461013.5:n.8222G>C
NM_001308122.1:c.872G>C	NP_001295051.1:p.Gly291Ala
NM_003060.3:c.800G>C	NP_003051.1:p.Gly267Ala
XM_011543590.1:c.182G>C	XP_011541892.1:p.Gly61Ala
XR_427718.1:n.1160G>C
XR_948290.1:n.1141G>C
XR_948291.1:n.1154G>C
XM_011543590.2:c.182G>C	XP_011541892.1:p.Gly61Ala
XM_017009778.2:c.272G>C	XP_016865267.1:p.Gly91Ala
XR_001742215.1:n.1141G>C
XR_001742216.1:n.1160G>C
XR_427718.2:n.1160G>C
XR_948290.2:n.1141G>C
XR_948291.2:n.1154G>C
NM_003060.4:c.800G>C MANE Select	NP_003051.1:p.Gly267Ala
NM_001308122.2:c.872G>C	NP_001295051.1:p.Gly291Ala