Canonical Allele Identifier: CA446330213

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721105G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385413G>T , CM000667.2:g.132385413G>T	GRCh38
NC_000005.9:g.131721105G>T , CM000667.1:g.131721105G>T	GRCh37
NC_000005.8:g.131749004G>T	NCBI36
NG_008982.1:g.20705G>T
NG_008982.2:g.20710G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1099G>T	ENSP00000388838.2:n.665+1099G>T
ENST00000435065.7:c.810G>T	ENSP00000402760.2:p.Leu270=
ENST00000448810.6:c.738G>T	ENSP00000401860.2:p.Leu246=
ENST00000686757.1:c.757G>T	ENSP00000510721.1:p.Ala253Ser
ENST00000687740.1:n.1898G>T
ENST00000688151.1:n.1930G>T
ENST00000689271.1:c.671+1093G>T	ENSP00000510797.1:n.671+1093G>T
ENST00000690900.1:c.709G>T	ENSP00000510703.1:p.Ala237Ser
ENST00000692212.1:n.564G>T
ENST00000692355.1:c.204+1112G>T
ENST00000692413.1:c.757G>T	ENSP00000509374.1:p.Ala253Ser
ENST00000692825.1:c.806G>T	ENSP00000509447.1:n.806G>T
ENST00000693308.1:c.751G>T	ENSP00000509770.1:p.Ala251Ser
ENST00000693763.1:n.1898G>T
ENST00000245407.8:c.738G>T MANE Select	ENSP00000245407.3:p.Leu246=
ENST00000245407.7:c.738G>T	ENSP00000245407.3:p.Leu246=
ENST00000415928.5:c.507G>T	ENSP00000388838.1:p.Leu169=
ENST00000435065.6:c.810G>T	ENSP00000402760.2:p.Leu270=
ENST00000437841.6:c.*53G>T	ENSP00000400553.1:n.*53G>T
ENST00000448810.5:c.86G>T
ENST00000461013.5:n.8160G>T
NM_001308122.1:c.810G>T	NP_001295051.1:p.Leu270=
NM_003060.3:c.738G>T	NP_003051.1:p.Leu246=
XM_011543590.1:c.120G>T	XP_011541892.1:p.Leu40=
XR_427718.1:n.1098G>T
XR_948290.1:n.1079G>T
XR_948291.1:n.1092G>T
XM_011543590.2:c.120G>T	XP_011541892.1:p.Leu40=
XM_017009778.2:c.210G>T	XP_016865267.1:p.Leu70=
XR_001742215.1:n.1079G>T
XR_001742216.1:n.1098G>T
XR_427718.2:n.1098G>T
XR_948290.2:n.1079G>T
XR_948291.2:n.1092G>T
NM_003060.4:c.738G>T MANE Select	NP_003051.1:p.Leu246=
NM_001308122.2:c.810G>T	NP_001295051.1:p.Leu270=