Canonical Allele Identifier: CA446330113

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721045T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385353T>G , CM000667.2:g.132385353T>G	GRCh38
NC_000005.9:g.131721045T>G , CM000667.1:g.131721045T>G	GRCh37
NC_000005.8:g.131748944T>G	NCBI36
NG_008982.1:g.20645T>G
NG_008982.2:g.20650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1039T>G	ENSP00000388838.2:n.665+1039T>G
ENST00000435065.7:c.750T>G	ENSP00000402760.2:p.Val250=
ENST00000448810.6:c.678T>G	ENSP00000401860.2:p.Val226=
ENST00000686757.1:c.697T>G	ENSP00000510721.1:p.Ser233Ala
ENST00000687740.1:n.1838T>G
ENST00000688151.1:n.1870T>G
ENST00000689271.1:c.671+1033T>G	ENSP00000510797.1:n.671+1033T>G
ENST00000690900.1:c.672-23T>G	ENSP00000510703.1:n.672-23T>G
ENST00000692212.1:n.504T>G
ENST00000692355.1:c.204+1052T>G
ENST00000692413.1:c.697T>G	ENSP00000509374.1:p.Ser233Ala
ENST00000692825.1:c.746T>G	ENSP00000509447.1:n.746T>G
ENST00000693308.1:c.691T>G	ENSP00000509770.1:p.Ser231Ala
ENST00000693763.1:n.1838T>G
ENST00000245407.8:c.678T>G MANE Select	ENSP00000245407.3:p.Val226=
ENST00000245407.7:c.678T>G	ENSP00000245407.3:p.Val226=
ENST00000415928.5:c.447T>G	ENSP00000388838.1:p.Val149=
ENST00000435065.6:c.750T>G	ENSP00000402760.2:p.Val250=
ENST00000437841.6:c.419T>G	ENSP00000400553.1:p.Phe140Cys
ENST00000448810.5:c.26T>G
ENST00000461013.5:n.8100T>G
NM_001308122.1:c.750T>G	NP_001295051.1:p.Val250=
NM_003060.3:c.678T>G	NP_003051.1:p.Val226=
XM_011543590.1:c.60T>G	XP_011541892.1:p.Val20=
XR_427718.1:n.1038T>G
XR_948290.1:n.1019T>G
XR_948291.1:n.1032T>G
XM_011543590.2:c.60T>G	XP_011541892.1:p.Val20=
XM_017009778.2:c.150T>G	XP_016865267.1:p.Val50=
XR_001742215.1:n.1019T>G
XR_001742216.1:n.1038T>G
XR_427718.2:n.1038T>G
XR_948290.2:n.1019T>G
XR_948291.2:n.1032T>G
NM_003060.4:c.678T>G MANE Select	NP_003051.1:p.Val226=
NM_001308122.2:c.750T>G	NP_001295051.1:p.Val250=