Canonical Allele Identifier: CA360805547

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722742C>A (hg19) ; chr5:g.132387050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387050C>A , CM000667.2:g.132387050C>A	GRCh38
NC_000005.9:g.131722742C>A , CM000667.1:g.131722742C>A	GRCh37
NC_000005.8:g.131750641C>A	NCBI36
NG_008982.1:g.22342C>A
NG_008982.2:g.22347C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.691C>A	ENSP00000388838.2:p.Leu231Ile
ENST00000435065.7:c.922C>A	ENSP00000402760.2:p.Leu308Ile
ENST00000448810.6:c.850C>A	ENSP00000401860.2:p.Leu284Ile
ENST00000686757.1:c.*14C>A	ENSP00000510721.1:n.*14C>A
ENST00000687740.1:n.3535C>A
ENST00000688151.1:n.2160C>A
ENST00000689271.1:c.697C>A	ENSP00000510797.1:p.Leu233Ile
ENST00000690900.1:c.*14C>A	ENSP00000510703.1:n.*14C>A
ENST00000692212.1:n.794C>A
ENST00000692355.1:c.205-1871C>A
ENST00000692413.1:c.844-12C>A	ENSP00000509374.1:n.844-12C>A
ENST00000692825.1:c.918C>A	ENSP00000509447.1:n.918C>A
ENST00000693308.1:c.898C>A	ENSP00000509770.1:p.Leu300Ile
ENST00000693763.1:n.2010C>A
ENST00000245407.8:c.850C>A MANE Select	ENSP00000245407.3:p.Leu284Ile
ENST00000245407.7:c.850C>A	ENSP00000245407.3:p.Leu284Ile
ENST00000415928.5:c.619C>A	ENSP00000388838.1:p.Leu207Ile
ENST00000435065.6:c.922C>A	ENSP00000402760.2:p.Leu308Ile
ENST00000437841.6:c.*165C>A	ENSP00000400553.1:n.*165C>A
ENST00000448810.5:c.198C>A
ENST00000461013.5:n.8272C>A
NM_001308122.1:c.922C>A	NP_001295051.1:p.Leu308Ile
NM_003060.3:c.850C>A	NP_003051.1:p.Leu284Ile
XM_011543590.1:c.232C>A	XP_011541892.1:p.Leu78Ile
XR_427718.1:n.1210C>A
XR_948290.1:n.1191C>A
XR_948291.1:n.1204C>A
XM_011543590.2:c.232C>A	XP_011541892.1:p.Leu78Ile
XM_017009778.2:c.322C>A	XP_016865267.1:p.Leu108Ile
XR_001742215.1:n.1191C>A
XR_001742216.1:n.1210C>A
XR_427718.2:n.1210C>A
XR_948290.2:n.1191C>A
XR_948291.2:n.1204C>A
NM_003060.4:c.850C>A MANE Select	NP_003051.1:p.Leu284Ile
NM_001308122.2:c.922C>A	NP_001295051.1:p.Leu308Ile