Canonical Allele Identifier: CA446338501

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1363022288
• gnomAD v2: 5-131726494-T-C
• gnomAD v4: 5-132390802-T-C
• MyVariant Identifiers: chr5:g.131726494T>C (hg19) ; chr5:g.132390802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390802T>C , CM000667.2:g.132390802T>C	GRCh38
NC_000005.9:g.131726494T>C , CM000667.1:g.131726494T>C	GRCh37
NC_000005.8:g.131754393T>C	NCBI36
NG_008982.1:g.26094T>C
NG_008982.2:g.26099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1006T>C	ENSP00000388838.2:p.Leu336=
ENST00000435065.7:c.1237T>C	ENSP00000402760.2:p.Leu413=
ENST00000448810.6:c.*17T>C	ENSP00000401860.2:n.*17T>C
ENST00000685543.1:n.1306T>C
ENST00000686757.1:c.*329T>C	ENSP00000510721.1:n.*329T>C
ENST00000687740.1:n.3850T>C
ENST00000688151.1:n.2475T>C
ENST00000689271.1:c.1012T>C	ENSP00000510797.1:p.Leu338=
ENST00000690900.1:c.*329T>C	ENSP00000510703.1:n.*329T>C
ENST00000692212.1:n.2777T>C
ENST00000692355.1:c.418T>C
ENST00000692413.1:c.1147T>C	ENSP00000509374.1:p.Leu383=
ENST00000692825.1:c.1233T>C	ENSP00000509447.1:n.1233T>C
ENST00000693308.1:c.1213T>C	ENSP00000509770.1:p.Leu405=
ENST00000693763.1:n.2325T>C
ENST00000245407.8:c.1165T>C MANE Select	ENSP00000245407.3:p.Leu389=
ENST00000245407.7:c.1165T>C	ENSP00000245407.3:p.Leu389=
ENST00000435065.6:c.1237T>C	ENSP00000402760.2:p.Leu413=
ENST00000447841.5:c.112-1631T>C
ENST00000448810.5:c.427T>C
ENST00000461013.5:n.8587T>C
ENST00000475308.1:n.1843T>C
ENST00000479605.5:n.268T>C
NM_001308122.1:c.1237T>C	NP_001295051.1:p.Leu413=
NM_003060.3:c.1165T>C	NP_003051.1:p.Leu389=
XM_011543590.1:c.547T>C	XP_011541892.1:p.Leu183=
XR_427718.1:n.1525T>C
XR_948290.1:n.1394-1631T>C
XR_948291.1:n.1519T>C
XM_011543590.2:c.547T>C	XP_011541892.1:p.Leu183=
XM_017009778.2:c.637T>C	XP_016865267.1:p.Leu213=
XR_001742215.1:n.1420T>C
XR_001742216.1:n.1439T>C
XR_427718.2:n.1525T>C
XR_948290.2:n.1394-1631T>C
XR_948291.2:n.1519T>C
NM_003060.4:c.1165T>C MANE Select	NP_003051.1:p.Leu389=
NM_001308122.2:c.1237T>C	NP_001295051.1:p.Leu413=