Canonical Allele Identifier: CA360804989

Gene: SLC22A5

Linked Data

• dbSNP Id: rs373199019
• gnomAD v3: 5-132385352-T-C
• gnomAD v4: 5-132385352-T-C
• MyVariant Identifiers: chr5:g.131721044T>C (hg19) ; chr5:g.132385352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385352T>C , CM000667.2:g.132385352T>C	GRCh38
NC_000005.9:g.131721044T>C , CM000667.1:g.131721044T>C	GRCh37
NC_000005.8:g.131748943T>C	NCBI36
NG_008982.1:g.20644T>C
NG_008982.2:g.20649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1038T>C	ENSP00000388838.2:n.665+1038T>C
ENST00000435065.7:c.749T>C	ENSP00000402760.2:p.Val250Ala
ENST00000448810.6:c.677T>C	ENSP00000401860.2:p.Val226Ala
ENST00000686757.1:c.696T>C	ENSP00000510721.1:p.Ser232=
ENST00000687740.1:n.1837T>C
ENST00000688151.1:n.1869T>C
ENST00000689271.1:c.671+1032T>C	ENSP00000510797.1:n.671+1032T>C
ENST00000690900.1:c.672-24T>C	ENSP00000510703.1:n.672-24T>C
ENST00000692212.1:n.503T>C
ENST00000692355.1:c.204+1051T>C
ENST00000692413.1:c.696T>C	ENSP00000509374.1:p.Ser232=
ENST00000692825.1:c.745T>C	ENSP00000509447.1:n.745T>C
ENST00000693308.1:c.690T>C	ENSP00000509770.1:p.Ser230=
ENST00000693763.1:n.1837T>C
ENST00000245407.8:c.677T>C MANE Select	ENSP00000245407.3:p.Val226Ala
ENST00000245407.7:c.677T>C	ENSP00000245407.3:p.Val226Ala
ENST00000415928.5:c.446T>C	ENSP00000388838.1:p.Val149Ala
ENST00000435065.6:c.749T>C	ENSP00000402760.2:p.Val250Ala
ENST00000437841.6:c.418T>C	ENSP00000400553.1:p.Phe140Leu
ENST00000448810.5:c.25T>C
ENST00000461013.5:n.8099T>C
NM_001308122.1:c.749T>C	NP_001295051.1:p.Val250Ala
NM_003060.3:c.677T>C	NP_003051.1:p.Val226Ala
XM_011543590.1:c.59T>C	XP_011541892.1:p.Val20Ala
XR_427718.1:n.1037T>C
XR_948290.1:n.1018T>C
XR_948291.1:n.1031T>C
XM_011543590.2:c.59T>C	XP_011541892.1:p.Val20Ala
XM_017009778.2:c.149T>C	XP_016865267.1:p.Val50Ala
XR_001742215.1:n.1018T>C
XR_001742216.1:n.1037T>C
XR_427718.2:n.1037T>C
XR_948290.2:n.1018T>C
XR_948291.2:n.1031T>C
NM_003060.4:c.677T>C MANE Select	NP_003051.1:p.Val226Ala
NM_001308122.2:c.749T>C	NP_001295051.1:p.Val250Ala