Canonical Allele Identifier: CA360805259

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721181G>T (hg19) ; chr5:g.132385489G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385489G>T , CM000667.2:g.132385489G>T	GRCh38
NC_000005.9:g.131721181G>T , CM000667.1:g.131721181G>T	GRCh37
NC_000005.8:g.131749080G>T	NCBI36
NG_008982.1:g.20781G>T
NG_008982.2:g.20786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1175G>T	ENSP00000388838.2:n.665+1175G>T
ENST00000435065.7:c.886G>T	ENSP00000402760.2:p.Ala296Ser
ENST00000448810.6:c.814G>T	ENSP00000401860.2:p.Ala272Ser
ENST00000686757.1:c.833G>T	ENSP00000510721.1:p.Gly278Val
ENST00000687740.1:n.1974G>T
ENST00000688151.1:n.2006G>T
ENST00000689271.1:c.671+1169G>T	ENSP00000510797.1:n.671+1169G>T
ENST00000690900.1:c.785G>T	ENSP00000510703.1:p.Gly262Val
ENST00000692212.1:n.640G>T
ENST00000692355.1:c.204+1188G>T
ENST00000692413.1:c.833G>T	ENSP00000509374.1:p.Gly278Val
ENST00000692825.1:c.882G>T	ENSP00000509447.1:n.882G>T
ENST00000693308.1:c.827G>T	ENSP00000509770.1:p.Gly276Val
ENST00000693763.1:n.1974G>T
ENST00000245407.8:c.814G>T MANE Select	ENSP00000245407.3:p.Ala272Ser
ENST00000245407.7:c.814G>T	ENSP00000245407.3:p.Ala272Ser
ENST00000415928.5:c.583G>T	ENSP00000388838.1:p.Ala195Ser
ENST00000435065.6:c.886G>T	ENSP00000402760.2:p.Ala296Ser
ENST00000437841.6:c.*129G>T	ENSP00000400553.1:n.*129G>T
ENST00000448810.5:c.162G>T
ENST00000461013.5:n.8236G>T
NM_001308122.1:c.886G>T	NP_001295051.1:p.Ala296Ser
NM_003060.3:c.814G>T	NP_003051.1:p.Ala272Ser
XM_011543590.1:c.196G>T	XP_011541892.1:p.Ala66Ser
XR_427718.1:n.1174G>T
XR_948290.1:n.1155G>T
XR_948291.1:n.1168G>T
XM_011543590.2:c.196G>T	XP_011541892.1:p.Ala66Ser
XM_017009778.2:c.286G>T	XP_016865267.1:p.Ala96Ser
XR_001742215.1:n.1155G>T
XR_001742216.1:n.1174G>T
XR_427718.2:n.1174G>T
XR_948290.2:n.1155G>T
XR_948291.2:n.1168G>T
NM_003060.4:c.814G>T MANE Select	NP_003051.1:p.Ala272Ser
NM_001308122.2:c.886G>T	NP_001295051.1:p.Ala296Ser