Canonical Allele Identifier: CA127209522

Gene: SLC22A5

Linked Data

• dbSNP Id: rs759289135
• gnomAD v2: 5-131721220-C-T
• gnomAD v4: 5-132385528-C-T
• MyVariant Identifiers: chr5:g.131721220C>T (hg19) ; chr5:g.132385528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385528C>T , CM000667.2:g.132385528C>T	GRCh38
NC_000005.9:g.131721220C>T , CM000667.1:g.131721220C>T	GRCh37
NC_000005.8:g.131749119C>T	NCBI36
NG_008982.1:g.20820C>T
NG_008982.2:g.20825C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1214C>T	ENSP00000388838.2:n.665+1214C>T
ENST00000435065.7:c.896+29C>T	ENSP00000402760.2:n.896+29C>T
ENST00000448810.6:c.824+29C>T	ENSP00000401860.2:n.824+29C>T
ENST00000686757.1:c.843+29C>T	ENSP00000510721.1:n.843+29C>T
ENST00000687740.1:n.2013C>T
ENST00000688151.1:n.2016+29C>T
ENST00000689271.1:c.671+1208C>T	ENSP00000510797.1:n.671+1208C>T
ENST00000690900.1:c.795+29C>T	ENSP00000510703.1:n.795+29C>T
ENST00000692212.1:n.650+29C>T
ENST00000692355.1:c.204+1227C>T
ENST00000692413.1:c.843+29C>T	ENSP00000509374.1:n.843+29C>T
ENST00000692825.1:c.892+29C>T	ENSP00000509447.1:n.892+29C>T
ENST00000693308.1:c.837+29C>T	ENSP00000509770.1:n.837+29C>T
ENST00000693763.1:n.1984+29C>T
ENST00000245407.8:c.824+29C>T MANE Select	ENSP00000245407.3:n.824+29C>T
ENST00000245407.7:c.824+29C>T	ENSP00000245407.3:n.824+29C>T
ENST00000415928.5:c.593+29C>T	ENSP00000388838.1:n.593+29C>T
ENST00000435065.6:c.896+29C>T	ENSP00000402760.2:n.896+29C>T
ENST00000437841.6:c.*139+29C>T	ENSP00000400553.1:n.*139+29C>T
ENST00000448810.5:c.172+29C>T
ENST00000461013.5:n.8246+29C>T
NM_001308122.1:c.896+29C>T	NP_001295051.1:n.896+29C>T
NM_003060.3:c.824+29C>T	NP_003051.1:n.824+29C>T
XM_011543590.1:c.206+29C>T	XP_011541892.1:n.206+29C>T
XR_427718.1:n.1184+29C>T
XR_948290.1:n.1165+29C>T
XR_948291.1:n.1178+29C>T
XM_011543590.2:c.206+29C>T	XP_011541892.1:n.206+29C>T
XM_017009778.2:c.296+29C>T	XP_016865267.1:n.296+29C>T
XR_001742215.1:n.1165+29C>T
XR_001742216.1:n.1184+29C>T
XR_427718.2:n.1184+29C>T
XR_948290.2:n.1165+29C>T
XR_948291.2:n.1178+29C>T
NM_003060.4:c.824+29C>T MANE Select	NP_003051.1:n.824+29C>T
NM_001308122.2:c.896+29C>T	NP_001295051.1:n.896+29C>T