Canonical Allele Identifier: CA446330171

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721078A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385386A>C , CM000667.2:g.132385386A>C	GRCh38
NC_000005.9:g.131721078A>C , CM000667.1:g.131721078A>C	GRCh37
NC_000005.8:g.131748977A>C	NCBI36
NG_008982.1:g.20678A>C
NG_008982.2:g.20683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1072A>C	ENSP00000388838.2:n.665+1072A>C
ENST00000435065.7:c.783A>C	ENSP00000402760.2:p.Ile261=
ENST00000448810.6:c.711A>C	ENSP00000401860.2:p.Ile237=
ENST00000686757.1:c.730A>C	ENSP00000510721.1:p.Ile244Leu
ENST00000687740.1:n.1871A>C
ENST00000688151.1:n.1903A>C
ENST00000689271.1:c.671+1066A>C	ENSP00000510797.1:n.671+1066A>C
ENST00000690900.1:c.682A>C	ENSP00000510703.1:p.Ile228Leu
ENST00000692212.1:n.537A>C
ENST00000692355.1:c.204+1085A>C
ENST00000692413.1:c.730A>C	ENSP00000509374.1:p.Ile244Leu
ENST00000692825.1:c.779A>C	ENSP00000509447.1:n.779A>C
ENST00000693308.1:c.724A>C	ENSP00000509770.1:p.Ile242Leu
ENST00000693763.1:n.1871A>C
ENST00000245407.8:c.711A>C MANE Select	ENSP00000245407.3:p.Ile237=
ENST00000245407.7:c.711A>C	ENSP00000245407.3:p.Ile237=
ENST00000415928.5:c.480A>C	ENSP00000388838.1:p.Ile160=
ENST00000435065.6:c.783A>C	ENSP00000402760.2:p.Ile261=
ENST00000437841.6:c.*26A>C	ENSP00000400553.1:n.*26A>C
ENST00000448810.5:c.59A>C
ENST00000461013.5:n.8133A>C
NM_001308122.1:c.783A>C	NP_001295051.1:p.Ile261=
NM_003060.3:c.711A>C	NP_003051.1:p.Ile237=
XM_011543590.1:c.93A>C	XP_011541892.1:p.Ile31=
XR_427718.1:n.1071A>C
XR_948290.1:n.1052A>C
XR_948291.1:n.1065A>C
XM_011543590.2:c.93A>C	XP_011541892.1:p.Ile31=
XM_017009778.2:c.183A>C	XP_016865267.1:p.Ile61=
XR_001742215.1:n.1052A>C
XR_001742216.1:n.1071A>C
XR_427718.2:n.1071A>C
XR_948290.2:n.1052A>C
XR_948291.2:n.1065A>C
NM_003060.4:c.711A>C MANE Select	NP_003051.1:p.Ile237=
NM_001308122.2:c.783A>C	NP_001295051.1:p.Ile261=