Canonical Allele Identifier: CA312969

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378403G>A , CM000667.2:g.132378403G>A	GRCh38
NC_000005.9:g.131714095G>A , CM000667.1:g.131714095G>A	GRCh37
NC_000005.8:g.131741994G>A	NCBI36
NG_008982.1:g.13695G>A
NG_008982.2:g.13700G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.419G>A MANE Select	NP_003051.1:p.Trp140Ter
ENST00000245407.8:c.419G>A MANE Select	ENSP00000245407.3:p.Trp140Ter
NM_001308122.1:c.491G>A	NP_001295051.1:p.Trp164Ter
NM_001308122.2:c.491G>A	NP_001295051.1:p.Trp164Ter
NM_003060.3:c.419G>A	NP_003051.1:p.Trp140Ter
ENST00000245407.7:c.419G>A	ENSP00000245407.3:p.Trp140Ter
ENST00000415928.5:c.188G>A	ENSP00000388838.1:p.Trp63Ter
ENST00000415928.6:c.419G>A	ENSP00000388838.2:p.Trp140Ter
ENST00000435065.6:c.491G>A	ENSP00000402760.2:p.Trp164Ter
ENST00000435065.7:c.491G>A	ENSP00000402760.2:p.Trp164Ter
ENST00000437841.6:c.394-6925G>A	ENSP00000400553.1:n.394-6925G>A
ENST00000448810.6:c.419G>A	ENSP00000401860.2:p.Trp140Ter
ENST00000461013.5:n.2176G>A
ENST00000686757.1:c.419G>A	ENSP00000510721.1:p.Trp140Ter
ENST00000687740.1:n.553G>A
ENST00000689271.1:c.419G>A	ENSP00000510797.1:p.Trp140Ter
ENST00000690900.1:c.419G>A	ENSP00000510703.1:p.Trp140Ter
ENST00000692413.1:c.419G>A	ENSP00000509374.1:p.Trp140Ter
ENST00000692825.1:c.487G>A	ENSP00000509447.1:n.487G>A
ENST00000693308.1:c.419G>A	ENSP00000509770.1:p.Trp140Ter
ENST00000693763.1:n.553G>A
XM_011543590.2:c.-213G>A	XP_011541892.1:n.-213G>A
XM_017009778.2:c.-31-5744G>A	XP_016865267.1:n.-31-5744G>A
XR_001742215.1:n.760G>A
XR_001742216.1:n.760G>A
XR_427718.1:n.760G>A
XR_427718.2:n.760G>A
XR_948290.1:n.760G>A
XR_948290.2:n.760G>A
XR_948291.1:n.760G>A
XR_948291.2:n.760G>A