Canonical Allele Identifier: CA360807495

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726416C>G (hg19) ; chr5:g.132390724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390724C>G , CM000667.2:g.132390724C>G	GRCh38
NC_000005.9:g.131726416C>G , CM000667.1:g.131726416C>G	GRCh37
NC_000005.8:g.131754315C>G	NCBI36
NG_008982.1:g.26016C>G
NG_008982.2:g.26021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.928C>G	ENSP00000388838.2:p.Leu310Val
ENST00000435065.7:c.1159C>G	ENSP00000402760.2:p.Leu387Val
ENST00000448810.6:c.1053-52C>G	ENSP00000401860.2:n.1053-52C>G
ENST00000685543.1:n.1228C>G
ENST00000686757.1:c.*251C>G	ENSP00000510721.1:n.*251C>G
ENST00000687740.1:n.3772C>G
ENST00000688151.1:n.2397C>G
ENST00000689271.1:c.934C>G	ENSP00000510797.1:p.Leu312Val
ENST00000690900.1:c.*251C>G	ENSP00000510703.1:n.*251C>G
ENST00000692212.1:n.2699C>G
ENST00000692355.1:c.340C>G
ENST00000692413.1:c.1069C>G	ENSP00000509374.1:p.Leu357Val
ENST00000692825.1:c.1155C>G	ENSP00000509447.1:n.1155C>G
ENST00000693308.1:c.1135C>G	ENSP00000509770.1:p.Leu379Val
ENST00000693763.1:n.2247C>G
ENST00000245407.8:c.1087C>G MANE Select	ENSP00000245407.3:p.Leu363Val
ENST00000245407.7:c.1087C>G	ENSP00000245407.3:p.Leu363Val
ENST00000435065.6:c.1159C>G	ENSP00000402760.2:p.Leu387Val
ENST00000447841.5:c.111+1703C>G
ENST00000448810.5:c.401-52C>G
ENST00000461013.5:n.8509C>G
ENST00000475308.1:n.1765C>G
ENST00000479605.5:n.190C>G
NM_001308122.1:c.1159C>G	NP_001295051.1:p.Leu387Val
NM_003060.3:c.1087C>G	NP_003051.1:p.Leu363Val
XM_011543590.1:c.469C>G	XP_011541892.1:p.Leu157Val
XR_427718.1:n.1447C>G
XR_948290.1:n.1393+1703C>G
XR_948291.1:n.1441C>G
XM_011543590.2:c.469C>G	XP_011541892.1:p.Leu157Val
XM_017009778.2:c.559C>G	XP_016865267.1:p.Leu187Val
XR_001742215.1:n.1394-52C>G
XR_001742216.1:n.1413-52C>G
XR_427718.2:n.1447C>G
XR_948290.2:n.1393+1703C>G
XR_948291.2:n.1441C>G
NM_003060.4:c.1087C>G MANE Select	NP_003051.1:p.Leu363Val
NM_001308122.2:c.1159C>G	NP_001295051.1:p.Leu387Val