Canonical Allele Identifier: CA360805215

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721157A>G (hg19) ; chr5:g.132385465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385465A>G , CM000667.2:g.132385465A>G	GRCh38
NC_000005.9:g.131721157A>G , CM000667.1:g.131721157A>G	GRCh37
NC_000005.8:g.131749056A>G	NCBI36
NG_008982.1:g.20757A>G
NG_008982.2:g.20762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1151A>G	ENSP00000388838.2:n.665+1151A>G
ENST00000435065.7:c.862A>G	ENSP00000402760.2:p.Thr288Ala
ENST00000448810.6:c.790A>G	ENSP00000401860.2:p.Thr264Ala
ENST00000686757.1:c.809A>G	ENSP00000510721.1:p.Asp270Gly
ENST00000687740.1:n.1950A>G
ENST00000688151.1:n.1982A>G
ENST00000689271.1:c.671+1145A>G	ENSP00000510797.1:n.671+1145A>G
ENST00000690900.1:c.761A>G	ENSP00000510703.1:p.Asp254Gly
ENST00000692212.1:n.616A>G
ENST00000692355.1:c.204+1164A>G
ENST00000692413.1:c.809A>G	ENSP00000509374.1:p.Asp270Gly
ENST00000692825.1:c.858A>G	ENSP00000509447.1:n.858A>G
ENST00000693308.1:c.803A>G	ENSP00000509770.1:p.Asp268Gly
ENST00000693763.1:n.1950A>G
ENST00000245407.8:c.790A>G MANE Select	ENSP00000245407.3:p.Thr264Ala
ENST00000245407.7:c.790A>G	ENSP00000245407.3:p.Thr264Ala
ENST00000415928.5:c.559A>G	ENSP00000388838.1:p.Thr187Ala
ENST00000435065.6:c.862A>G	ENSP00000402760.2:p.Thr288Ala
ENST00000437841.6:c.*105A>G	ENSP00000400553.1:n.*105A>G
ENST00000448810.5:c.138A>G
ENST00000461013.5:n.8212A>G
NM_001308122.1:c.862A>G	NP_001295051.1:p.Thr288Ala
NM_003060.3:c.790A>G	NP_003051.1:p.Thr264Ala
XM_011543590.1:c.172A>G	XP_011541892.1:p.Thr58Ala
XR_427718.1:n.1150A>G
XR_948290.1:n.1131A>G
XR_948291.1:n.1144A>G
XM_011543590.2:c.172A>G	XP_011541892.1:p.Thr58Ala
XM_017009778.2:c.262A>G	XP_016865267.1:p.Thr88Ala
XR_001742215.1:n.1131A>G
XR_001742216.1:n.1150A>G
XR_427718.2:n.1150A>G
XR_948290.2:n.1131A>G
XR_948291.2:n.1144A>G
NM_003060.4:c.790A>G MANE Select	NP_003051.1:p.Thr264Ala
NM_001308122.2:c.862A>G	NP_001295051.1:p.Thr288Ala