Canonical Allele Identifier: CA360804998

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1561571356
• gnomAD v4: 5-132385359-A-G
• MyVariant Identifiers: chr5:g.131721051A>G (hg19) ; chr5:g.132385359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385359A>G , CM000667.2:g.132385359A>G	GRCh38
NC_000005.9:g.131721051A>G , CM000667.1:g.131721051A>G	GRCh37
NC_000005.8:g.131748950A>G	NCBI36
NG_008982.1:g.20651A>G
NG_008982.2:g.20656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1045A>G	ENSP00000388838.2:n.665+1045A>G
ENST00000435065.7:c.756A>G	ENSP00000402760.2:p.Ile252Met
ENST00000448810.6:c.684A>G	ENSP00000401860.2:p.Ile228Met
ENST00000686757.1:c.703A>G	ENSP00000510721.1:p.Asn235Asp
ENST00000687740.1:n.1844A>G
ENST00000688151.1:n.1876A>G
ENST00000689271.1:c.671+1039A>G	ENSP00000510797.1:n.671+1039A>G
ENST00000690900.1:c.672-17A>G	ENSP00000510703.1:n.672-17A>G
ENST00000692212.1:n.510A>G
ENST00000692355.1:c.204+1058A>G
ENST00000692413.1:c.703A>G	ENSP00000509374.1:p.Asn235Asp
ENST00000692825.1:c.752A>G	ENSP00000509447.1:n.752A>G
ENST00000693308.1:c.697A>G	ENSP00000509770.1:p.Asn233Asp
ENST00000693763.1:n.1844A>G
ENST00000245407.8:c.684A>G MANE Select	ENSP00000245407.3:p.Ile228Met
ENST00000245407.7:c.684A>G	ENSP00000245407.3:p.Ile228Met
ENST00000415928.5:c.453A>G	ENSP00000388838.1:p.Ile151Met
ENST00000435065.6:c.756A>G	ENSP00000402760.2:p.Ile252Met
ENST00000437841.6:c.425A>G	ENSP00000400553.1:p.Ter142=
ENST00000448810.5:c.32A>G
ENST00000461013.5:n.8106A>G
NM_001308122.1:c.756A>G	NP_001295051.1:p.Ile252Met
NM_003060.3:c.684A>G	NP_003051.1:p.Ile228Met
XM_011543590.1:c.66A>G	XP_011541892.1:p.Ile22Met
XR_427718.1:n.1044A>G
XR_948290.1:n.1025A>G
XR_948291.1:n.1038A>G
XM_011543590.2:c.66A>G	XP_011541892.1:p.Ile22Met
XM_017009778.2:c.156A>G	XP_016865267.1:p.Ile52Met
XR_001742215.1:n.1025A>G
XR_001742216.1:n.1044A>G
XR_427718.2:n.1044A>G
XR_948290.2:n.1025A>G
XR_948291.2:n.1038A>G
NM_003060.4:c.684A>G MANE Select	NP_003051.1:p.Ile228Met
NM_001308122.2:c.756A>G	NP_001295051.1:p.Ile252Met