Canonical Allele Identifier: CA1583150054

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390789C= , CM000667.2:g.132390789C=	GRCh38
NC_000005.9:g.131726481C= , CM000667.1:g.131726481C=	GRCh37
NC_000005.8:g.131754380C=	NCBI36
NG_008982.1:g.26081C=
NG_008982.2:g.26086C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.993C=	ENSP00000388838.2:p.Val331=
ENST00000435065.7:c.1224C=	ENSP00000402760.2:p.Val408=
ENST00000448810.6:c.*4C=	ENSP00000401860.2:n.*4C=
ENST00000685543.1:n.1293C=
ENST00000686757.1:c.*316C=	ENSP00000510721.1:n.*316C=
ENST00000687740.1:n.3837C=
ENST00000688151.1:n.2462C=
ENST00000689271.1:c.999C=	ENSP00000510797.1:p.Val333=
ENST00000690900.1:c.*316C=	ENSP00000510703.1:n.*316C=
ENST00000692212.1:n.2764C=
ENST00000692355.1:c.405C=
ENST00000692413.1:c.1134C=	ENSP00000509374.1:p.Val378=
ENST00000692825.1:c.1220C=	ENSP00000509447.1:n.1220C=
ENST00000693308.1:c.1200C=	ENSP00000509770.1:p.Val400=
ENST00000693763.1:n.2312C=
ENST00000245407.8:c.1152C= MANE Select	ENSP00000245407.3:p.Val384=
ENST00000245407.7:c.1152C=	ENSP00000245407.3:p.Val384=
ENST00000435065.6:c.1224C=	ENSP00000402760.2:p.Val408=
ENST00000447841.5:c.112-1644C=
ENST00000448810.5:c.414C=
ENST00000461013.5:n.8574C=
ENST00000475308.1:n.1830C=
ENST00000479605.5:n.255C=
NM_001308122.1:c.1224C=	NP_001295051.1:p.Val408=
NM_003060.3:c.1152C=	NP_003051.1:p.Val384=
XM_011543590.1:c.534C=	XP_011541892.1:p.Val178=
XR_427718.1:n.1512C=
XR_948290.1:n.1394-1644C=
XR_948291.1:n.1506C=
XM_011543590.2:c.534C=	XP_011541892.1:p.Val178=
XM_017009778.2:c.624C=	XP_016865267.1:p.Val208=
XR_001742215.1:n.1407C=
XR_001742216.1:n.1426C=
XR_427718.2:n.1512C=
XR_948290.2:n.1394-1644C=
XR_948291.2:n.1506C=
NM_003060.4:c.1152C= MANE Select	NP_003051.1:p.Val384=
NM_001308122.2:c.1224C=	NP_001295051.1:p.Val408=