Canonical Allele Identifier: CA360810165

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729890A>G (hg19) ; chr5:g.132394198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394198A>G , CM000667.2:g.132394198A>G	GRCh38
NC_000005.9:g.131729890A>G , CM000667.1:g.131729890A>G	GRCh37
NC_000005.8:g.131757789A>G	NCBI36
NG_008982.1:g.29490A>G
NG_008982.2:g.29495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*9A>G	ENSP00000388838.2:n.*9A>G
ENST00000435065.7:c.1672A>G	ENSP00000402760.2:p.Lys558Glu
ENST00000448810.6:c.*452A>G	ENSP00000401860.2:n.*452A>G
ENST00000685543.1:n.1741A>G
ENST00000686757.1:c.*764A>G	ENSP00000510721.1:n.*764A>G
ENST00000686868.1:n.592A>G
ENST00000687740.1:n.4285A>G
ENST00000688151.1:n.2910A>G
ENST00000689271.1:c.1447A>G	ENSP00000510797.1:p.Lys483Glu
ENST00000690900.1:c.*764A>G	ENSP00000510703.1:n.*764A>G
ENST00000692212.1:n.4740A>G
ENST00000692355.1:c.853A>G
ENST00000692413.1:c.1582A>G	ENSP00000509374.1:p.Lys528Glu
ENST00000692825.1:c.1668A>G	ENSP00000509447.1:n.1668A>G
ENST00000693308.1:c.1648A>G	ENSP00000509770.1:p.Lys550Glu
ENST00000693763.1:n.2760A>G
ENST00000245407.8:c.1600A>G MANE Select	ENSP00000245407.3:p.Lys534Glu
ENST00000245407.7:c.1600A>G	ENSP00000245407.3:p.Lys534Glu
ENST00000435065.6:c.1672A>G	ENSP00000402760.2:p.Lys558Glu
ENST00000447841.5:c.444A>G
ENST00000461013.5:n.9022A>G
ENST00000475308.1:n.2278A>G
NM_001308122.1:c.1672A>G	NP_001295051.1:p.Lys558Glu
NM_003060.3:c.1600A>G	NP_003051.1:p.Lys534Glu
XM_011543590.1:c.982A>G	XP_011541892.1:p.Lys328Glu
XR_948290.1:n.1726A>G
XM_011543590.2:c.982A>G	XP_011541892.1:p.Lys328Glu
XM_017009778.2:c.1072A>G	XP_016865267.1:p.Lys358Glu
XR_001742215.1:n.1855A>G
XR_001742216.1:n.1874A>G
XR_427718.2:n.1960A>G
XR_948290.2:n.1726A>G
XR_948291.2:n.1954A>G
NM_003060.4:c.1600A>G MANE Select	NP_003051.1:p.Lys534Glu
NM_001308122.2:c.1672A>G	NP_001295051.1:p.Lys558Glu