Canonical Allele Identifier: CA1583149954

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390738C= , CM000667.2:g.132390738C=	GRCh38
NC_000005.9:g.131726430C= , CM000667.1:g.131726430C=	GRCh37
NC_000005.8:g.131754329C=	NCBI36
NG_008982.1:g.26030C=
NG_008982.2:g.26035C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.942C=	ENSP00000388838.2:p.Asn314=
ENST00000435065.7:c.1173C=	ENSP00000402760.2:p.Asn391=
ENST00000448810.6:c.1053-38C=	ENSP00000401860.2:n.1053-38C=
ENST00000685543.1:n.1242C=
ENST00000686757.1:c.*265C=	ENSP00000510721.1:n.*265C=
ENST00000687740.1:n.3786C=
ENST00000688151.1:n.2411C=
ENST00000689271.1:c.948C=	ENSP00000510797.1:p.Asn316=
ENST00000690900.1:c.*265C=	ENSP00000510703.1:n.*265C=
ENST00000692212.1:n.2713C=
ENST00000692355.1:c.354C=
ENST00000692413.1:c.1083C=	ENSP00000509374.1:p.Asn361=
ENST00000692825.1:c.1169C=	ENSP00000509447.1:n.1169C=
ENST00000693308.1:c.1149C=	ENSP00000509770.1:p.Asn383=
ENST00000693763.1:n.2261C=
ENST00000245407.8:c.1101C= MANE Select	ENSP00000245407.3:p.Asn367=
ENST00000245407.7:c.1101C=	ENSP00000245407.3:p.Asn367=
ENST00000435065.6:c.1173C=	ENSP00000402760.2:p.Asn391=
ENST00000447841.5:c.112-1695C=
ENST00000448810.5:c.401-38C=
ENST00000461013.5:n.8523C=
ENST00000475308.1:n.1779C=
ENST00000479605.5:n.204C=
NM_001308122.1:c.1173C=	NP_001295051.1:p.Asn391=
NM_003060.3:c.1101C=	NP_003051.1:p.Asn367=
XM_011543590.1:c.483C=	XP_011541892.1:p.Asn161=
XR_427718.1:n.1461C=
XR_948290.1:n.1394-1695C=
XR_948291.1:n.1455C=
XM_011543590.2:c.483C=	XP_011541892.1:p.Asn161=
XM_017009778.2:c.573C=	XP_016865267.1:p.Asn191=
XR_001742215.1:n.1394-38C=
XR_001742216.1:n.1413-38C=
XR_427718.2:n.1461C=
XR_948290.2:n.1394-1695C=
XR_948291.2:n.1455C=
NM_003060.4:c.1101C= MANE Select	NP_003051.1:p.Asn367=
NM_001308122.2:c.1173C=	NP_001295051.1:p.Asn391=