Canonical Allele Identifier: CA360805007

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721056T>C (hg19) ; chr5:g.132385364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385364T>C , CM000667.2:g.132385364T>C	GRCh38
NC_000005.9:g.131721056T>C , CM000667.1:g.131721056T>C	GRCh37
NC_000005.8:g.131748955T>C	NCBI36
NG_008982.1:g.20656T>C
NG_008982.2:g.20661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1050T>C	ENSP00000388838.2:n.665+1050T>C
ENST00000435065.7:c.761T>C	ENSP00000402760.2:p.Phe254Ser
ENST00000448810.6:c.689T>C	ENSP00000401860.2:p.Phe230Ser
ENST00000686757.1:c.708T>C	ENSP00000510721.1:p.Ile236=
ENST00000687740.1:n.1849T>C
ENST00000688151.1:n.1881T>C
ENST00000689271.1:c.671+1044T>C	ENSP00000510797.1:n.671+1044T>C
ENST00000690900.1:c.672-12T>C	ENSP00000510703.1:n.672-12T>C
ENST00000692212.1:n.515T>C
ENST00000692355.1:c.204+1063T>C
ENST00000692413.1:c.708T>C	ENSP00000509374.1:p.Ile236=
ENST00000692825.1:c.757T>C	ENSP00000509447.1:n.757T>C
ENST00000693308.1:c.702T>C	ENSP00000509770.1:p.Ile234=
ENST00000693763.1:n.1849T>C
ENST00000245407.8:c.689T>C MANE Select	ENSP00000245407.3:p.Phe230Ser
ENST00000245407.7:c.689T>C	ENSP00000245407.3:p.Phe230Ser
ENST00000415928.5:c.458T>C	ENSP00000388838.1:p.Phe153Ser
ENST00000435065.6:c.761T>C	ENSP00000402760.2:p.Phe254Ser
ENST00000437841.6:c.*4T>C	ENSP00000400553.1:n.*4T>C
ENST00000448810.5:c.37T>C
ENST00000461013.5:n.8111T>C
NM_001308122.1:c.761T>C	NP_001295051.1:p.Phe254Ser
NM_003060.3:c.689T>C	NP_003051.1:p.Phe230Ser
XM_011543590.1:c.71T>C	XP_011541892.1:p.Phe24Ser
XR_427718.1:n.1049T>C
XR_948290.1:n.1030T>C
XR_948291.1:n.1043T>C
XM_011543590.2:c.71T>C	XP_011541892.1:p.Phe24Ser
XM_017009778.2:c.161T>C	XP_016865267.1:p.Phe54Ser
XR_001742215.1:n.1030T>C
XR_001742216.1:n.1049T>C
XR_427718.2:n.1049T>C
XR_948290.2:n.1030T>C
XR_948291.2:n.1043T>C
NM_003060.4:c.689T>C MANE Select	NP_003051.1:p.Phe230Ser
NM_001308122.2:c.761T>C	NP_001295051.1:p.Phe254Ser