Canonical Allele Identifier: CA360809683

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729393C>A (hg19) ; chr5:g.132393701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393701C>A , CM000667.2:g.132393701C>A	GRCh38
NC_000005.9:g.131729393C>A , CM000667.1:g.131729393C>A	GRCh37
NC_000005.8:g.131757292C>A	NCBI36
NG_008982.1:g.28993C>A
NG_008982.2:g.28998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-484C>A	ENSP00000388838.2:n.1292-484C>A
ENST00000435065.7:c.1548C>A	ENSP00000402760.2:p.Tyr516Ter
ENST00000448810.6:c.*328C>A	ENSP00000401860.2:n.*328C>A
ENST00000685543.1:n.1617C>A
ENST00000686757.1:c.*640C>A	ENSP00000510721.1:n.*640C>A
ENST00000686868.1:n.468C>A
ENST00000687740.1:n.4161C>A
ENST00000688151.1:n.2786C>A
ENST00000689271.1:c.1323C>A	ENSP00000510797.1:p.Tyr441Ter
ENST00000690900.1:c.*640C>A	ENSP00000510703.1:n.*640C>A
ENST00000692212.1:n.4616C>A
ENST00000692355.1:c.729C>A
ENST00000692413.1:c.1458C>A	ENSP00000509374.1:p.Tyr486Ter
ENST00000692825.1:c.1544C>A	ENSP00000509447.1:n.1544C>A
ENST00000693308.1:c.1524C>A	ENSP00000509770.1:p.Tyr508Ter
ENST00000693763.1:n.2636C>A
ENST00000245407.8:c.1476C>A MANE Select	ENSP00000245407.3:p.Tyr492Ter
ENST00000245407.7:c.1476C>A	ENSP00000245407.3:p.Tyr492Ter
ENST00000435065.6:c.1548C>A	ENSP00000402760.2:p.Tyr516Ter
ENST00000447841.5:c.320C>A
ENST00000448810.5:c.738C>A
ENST00000461013.5:n.8898C>A
ENST00000475308.1:n.2154C>A
NM_001308122.1:c.1548C>A	NP_001295051.1:p.Tyr516Ter
NM_003060.3:c.1476C>A	NP_003051.1:p.Tyr492Ter
XM_011543590.1:c.858C>A	XP_011541892.1:p.Tyr286Ter
XR_948290.1:n.1602C>A
XM_011543590.2:c.858C>A	XP_011541892.1:p.Tyr286Ter
XM_017009778.2:c.948C>A	XP_016865267.1:p.Tyr316Ter
XR_001742215.1:n.1731C>A
XR_001742216.1:n.1750C>A
XR_427718.2:n.1836C>A
XR_948290.2:n.1602C>A
XR_948291.2:n.1830C>A
NM_003060.4:c.1476C>A MANE Select	NP_003051.1:p.Tyr492Ter
NM_001308122.2:c.1548C>A	NP_001295051.1:p.Tyr516Ter