Canonical Allele Identifier: CA1583150258

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390879T= , CM000667.2:g.132390879T=	GRCh38
NC_000005.9:g.131726571T= , CM000667.1:g.131726571T=	GRCh37
NC_000005.8:g.131754470T=	NCBI36
NG_008982.1:g.26171T=
NG_008982.2:g.26176T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1083T=	ENSP00000388838.2:p.Leu361=
ENST00000435065.7:c.1314T=	ENSP00000402760.2:p.Leu438=
ENST00000448810.6:c.*94T=	ENSP00000401860.2:n.*94T=
ENST00000685543.1:n.1383T=
ENST00000686757.1:c.*406T=	ENSP00000510721.1:n.*406T=
ENST00000687740.1:n.3927T=
ENST00000688151.1:n.2552T=
ENST00000689271.1:c.1089T=	ENSP00000510797.1:p.Leu363=
ENST00000690900.1:c.*406T=	ENSP00000510703.1:n.*406T=
ENST00000692212.1:n.2854T=
ENST00000692355.1:c.495T=
ENST00000692413.1:c.1224T=	ENSP00000509374.1:p.Leu408=
ENST00000692825.1:c.1310T=	ENSP00000509447.1:n.1310T=
ENST00000693308.1:c.1290T=	ENSP00000509770.1:p.Leu430=
ENST00000693763.1:n.2402T=
ENST00000245407.8:c.1242T= MANE Select	ENSP00000245407.3:p.Leu414=
ENST00000245407.7:c.1242T=	ENSP00000245407.3:p.Leu414=
ENST00000435065.6:c.1314T=	ENSP00000402760.2:p.Leu438=
ENST00000447841.5:c.112-1554T=
ENST00000448810.5:c.504T=
ENST00000461013.5:n.8664T=
ENST00000475308.1:n.1920T=
ENST00000479605.5:n.345T=
NM_001308122.1:c.1314T=	NP_001295051.1:p.Leu438=
NM_003060.3:c.1242T=	NP_003051.1:p.Leu414=
XM_011543590.1:c.624T=	XP_011541892.1:p.Leu208=
XR_427718.1:n.1602T=
XR_948290.1:n.1394-1554T=
XR_948291.1:n.1596T=
XM_011543590.2:c.624T=	XP_011541892.1:p.Leu208=
XM_017009778.2:c.714T=	XP_016865267.1:p.Leu238=
XR_001742215.1:n.1497T=
XR_001742216.1:n.1516T=
XR_427718.2:n.1602T=
XR_948290.2:n.1394-1554T=
XR_948291.2:n.1596T=
NM_003060.4:c.1242T= MANE Select	NP_003051.1:p.Leu414=
NM_001308122.2:c.1314T=	NP_001295051.1:p.Leu438=