Canonical Allele Identifier: CA3403954

Gene: SLC22A5

Linked Data

• dbSNP Id: rs772523436
• ExAC: 5:131721070 G / A
• gnomAD v2: 5-131721070-G-A
• gnomAD v4: 5-132385378-G-A
• MyVariant Identifiers: chr5:g.131721070G>A (hg19) ; chr5:g.132385378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385378G>A , CM000667.2:g.132385378G>A	GRCh38
NC_000005.9:g.131721070G>A , CM000667.1:g.131721070G>A	GRCh37
NC_000005.8:g.131748969G>A	NCBI36
NG_008982.1:g.20670G>A
NG_008982.2:g.20675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1064G>A	ENSP00000388838.2:n.665+1064G>A
ENST00000435065.7:c.775G>A	ENSP00000402760.2:p.Val259Met
ENST00000448810.6:c.703G>A	ENSP00000401860.2:p.Val235Met
ENST00000686757.1:c.722G>A	ENSP00000510721.1:p.Ser241Asn
ENST00000687740.1:n.1863G>A
ENST00000688151.1:n.1895G>A
ENST00000689271.1:c.671+1058G>A	ENSP00000510797.1:n.671+1058G>A
ENST00000690900.1:c.674G>A	ENSP00000510703.1:p.Ser225Asn
ENST00000692212.1:n.529G>A
ENST00000692355.1:c.204+1077G>A
ENST00000692413.1:c.722G>A	ENSP00000509374.1:p.Ser241Asn
ENST00000692825.1:c.771G>A	ENSP00000509447.1:n.771G>A
ENST00000693308.1:c.716G>A	ENSP00000509770.1:p.Ser239Asn
ENST00000693763.1:n.1863G>A
ENST00000245407.8:c.703G>A MANE Select	ENSP00000245407.3:p.Val235Met
ENST00000245407.7:c.703G>A	ENSP00000245407.3:p.Val235Met
ENST00000415928.5:c.472G>A	ENSP00000388838.1:p.Val158Met
ENST00000435065.6:c.775G>A	ENSP00000402760.2:p.Val259Met
ENST00000437841.6:c.*18G>A	ENSP00000400553.1:n.*18G>A
ENST00000448810.5:c.51G>A
ENST00000461013.5:n.8125G>A
NM_001308122.1:c.775G>A	NP_001295051.1:p.Val259Met
NM_003060.3:c.703G>A	NP_003051.1:p.Val235Met
XM_011543590.1:c.85G>A	XP_011541892.1:p.Val29Met
XR_427718.1:n.1063G>A
XR_948290.1:n.1044G>A
XR_948291.1:n.1057G>A
XM_011543590.2:c.85G>A	XP_011541892.1:p.Val29Met
XM_017009778.2:c.175G>A	XP_016865267.1:p.Val59Met
XR_001742215.1:n.1044G>A
XR_001742216.1:n.1063G>A
XR_427718.2:n.1063G>A
XR_948290.2:n.1044G>A
XR_948291.2:n.1057G>A
NM_003060.4:c.703G>A MANE Select	NP_003051.1:p.Val235Met
NM_001308122.2:c.775G>A	NP_001295051.1:p.Val259Met