Canonical Allele Identifier: CA1583144549

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385341T= , CM000667.2:g.132385341T=	GRCh38
NC_000005.9:g.131721033T= , CM000667.1:g.131721033T=	GRCh37
NC_000005.8:g.131748932T=	NCBI36
NG_008982.1:g.20633T=
NG_008982.2:g.20638T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1027T=	ENSP00000388838.2:n.665+1027T=
ENST00000435065.7:c.738T=	ENSP00000402760.2:p.Leu246=
ENST00000448810.6:c.666T=	ENSP00000401860.2:p.Leu222=
ENST00000686757.1:c.685T=	ENSP00000510721.1:p.Trp229=
ENST00000687740.1:n.1826T=
ENST00000688151.1:n.1858T=
ENST00000689271.1:c.671+1021T=	ENSP00000510797.1:n.671+1021T=
ENST00000690900.1:c.672-35T=	ENSP00000510703.1:n.672-35T=
ENST00000692212.1:n.492T=
ENST00000692355.1:c.204+1040T=
ENST00000692413.1:c.685T=	ENSP00000509374.1:p.Trp229=
ENST00000692825.1:c.734T=	ENSP00000509447.1:n.734T=
ENST00000693308.1:c.679T=	ENSP00000509770.1:p.Trp227=
ENST00000693763.1:n.1826T=
ENST00000245407.8:c.666T= MANE Select	ENSP00000245407.3:p.Leu222=
ENST00000245407.7:c.666T=	ENSP00000245407.3:p.Leu222=
ENST00000415928.5:c.435T=	ENSP00000388838.1:p.Leu145=
ENST00000435065.6:c.738T=	ENSP00000402760.2:p.Leu246=
ENST00000437841.6:c.407T=	ENSP00000400553.1:p.Leu136=
ENST00000448810.5:c.14T=
ENST00000461013.5:n.8088T=
NM_001308122.1:c.738T=	NP_001295051.1:p.Leu246=
NM_003060.3:c.666T=	NP_003051.1:p.Leu222=
XM_011543590.1:c.48T=	XP_011541892.1:p.Leu16=
XR_427718.1:n.1026T=
XR_948290.1:n.1007T=
XR_948291.1:n.1020T=
XM_011543590.2:c.48T=	XP_011541892.1:p.Leu16=
XM_017009778.2:c.138T=	XP_016865267.1:p.Leu46=
XR_001742215.1:n.1007T=
XR_001742216.1:n.1026T=
XR_427718.2:n.1026T=
XR_948290.2:n.1007T=
XR_948291.2:n.1020T=
NM_003060.4:c.666T= MANE Select	NP_003051.1:p.Leu222=
NM_001308122.2:c.738T=	NP_001295051.1:p.Leu246=