Canonical Allele Identifier: CA360805009

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721057C>A (hg19) ; chr5:g.132385365C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385365C>A , CM000667.2:g.132385365C>A	GRCh38
NC_000005.9:g.131721057C>A , CM000667.1:g.131721057C>A	GRCh37
NC_000005.8:g.131748956C>A	NCBI36
NG_008982.1:g.20657C>A
NG_008982.2:g.20662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1051C>A	ENSP00000388838.2:n.665+1051C>A
ENST00000435065.7:c.762C>A	ENSP00000402760.2:p.Phe254Leu
ENST00000448810.6:c.690C>A	ENSP00000401860.2:p.Phe230Leu
ENST00000686757.1:c.709C>A	ENSP00000510721.1:p.Leu237Ile
ENST00000687740.1:n.1850C>A
ENST00000688151.1:n.1882C>A
ENST00000689271.1:c.671+1045C>A	ENSP00000510797.1:n.671+1045C>A
ENST00000690900.1:c.672-11C>A	ENSP00000510703.1:n.672-11C>A
ENST00000692212.1:n.516C>A
ENST00000692355.1:c.204+1064C>A
ENST00000692413.1:c.709C>A	ENSP00000509374.1:p.Leu237Ile
ENST00000692825.1:c.758C>A	ENSP00000509447.1:n.758C>A
ENST00000693308.1:c.703C>A	ENSP00000509770.1:p.Leu235Ile
ENST00000693763.1:n.1850C>A
ENST00000245407.8:c.690C>A MANE Select	ENSP00000245407.3:p.Phe230Leu
ENST00000245407.7:c.690C>A	ENSP00000245407.3:p.Phe230Leu
ENST00000415928.5:c.459C>A	ENSP00000388838.1:p.Phe153Leu
ENST00000435065.6:c.762C>A	ENSP00000402760.2:p.Phe254Leu
ENST00000437841.6:c.*5C>A	ENSP00000400553.1:n.*5C>A
ENST00000448810.5:c.38C>A
ENST00000461013.5:n.8112C>A
NM_001308122.1:c.762C>A	NP_001295051.1:p.Phe254Leu
NM_003060.3:c.690C>A	NP_003051.1:p.Phe230Leu
XM_011543590.1:c.72C>A	XP_011541892.1:p.Phe24Leu
XR_427718.1:n.1050C>A
XR_948290.1:n.1031C>A
XR_948291.1:n.1044C>A
XM_011543590.2:c.72C>A	XP_011541892.1:p.Phe24Leu
XM_017009778.2:c.162C>A	XP_016865267.1:p.Phe54Leu
XR_001742215.1:n.1031C>A
XR_001742216.1:n.1050C>A
XR_427718.2:n.1050C>A
XR_948290.2:n.1031C>A
XR_948291.2:n.1044C>A
NM_003060.4:c.690C>A MANE Select	NP_003051.1:p.Phe230Leu
NM_001308122.2:c.762C>A	NP_001295051.1:p.Phe254Leu