Canonical Allele Identifier: CA446330524

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721180G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385488G>T , CM000667.2:g.132385488G>T	GRCh38
NC_000005.9:g.131721180G>T , CM000667.1:g.131721180G>T	GRCh37
NC_000005.8:g.131749079G>T	NCBI36
NG_008982.1:g.20780G>T
NG_008982.2:g.20785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1174G>T	ENSP00000388838.2:n.665+1174G>T
ENST00000435065.7:c.885G>T	ENSP00000402760.2:p.Val295=
ENST00000448810.6:c.813G>T	ENSP00000401860.2:p.Val271=
ENST00000686757.1:c.832G>T	ENSP00000510721.1:p.Gly278Cys
ENST00000687740.1:n.1973G>T
ENST00000688151.1:n.2005G>T
ENST00000689271.1:c.671+1168G>T	ENSP00000510797.1:n.671+1168G>T
ENST00000690900.1:c.784G>T	ENSP00000510703.1:p.Gly262Cys
ENST00000692212.1:n.639G>T
ENST00000692355.1:c.204+1187G>T
ENST00000692413.1:c.832G>T	ENSP00000509374.1:p.Gly278Cys
ENST00000692825.1:c.881G>T	ENSP00000509447.1:n.881G>T
ENST00000693308.1:c.826G>T	ENSP00000509770.1:p.Gly276Cys
ENST00000693763.1:n.1973G>T
ENST00000245407.8:c.813G>T MANE Select	ENSP00000245407.3:p.Val271=
ENST00000245407.7:c.813G>T	ENSP00000245407.3:p.Val271=
ENST00000415928.5:c.582G>T	ENSP00000388838.1:p.Val194=
ENST00000435065.6:c.885G>T	ENSP00000402760.2:p.Val295=
ENST00000437841.6:c.*128G>T	ENSP00000400553.1:n.*128G>T
ENST00000448810.5:c.161G>T
ENST00000461013.5:n.8235G>T
NM_001308122.1:c.885G>T	NP_001295051.1:p.Val295=
NM_003060.3:c.813G>T	NP_003051.1:p.Val271=
XM_011543590.1:c.195G>T	XP_011541892.1:p.Val65=
XR_427718.1:n.1173G>T
XR_948290.1:n.1154G>T
XR_948291.1:n.1167G>T
XM_011543590.2:c.195G>T	XP_011541892.1:p.Val65=
XM_017009778.2:c.285G>T	XP_016865267.1:p.Val95=
XR_001742215.1:n.1154G>T
XR_001742216.1:n.1173G>T
XR_427718.2:n.1173G>T
XR_948290.2:n.1154G>T
XR_948291.2:n.1167G>T
NM_003060.4:c.813G>T MANE Select	NP_003051.1:p.Val271=
NM_001308122.2:c.885G>T	NP_001295051.1:p.Val295=