Canonical Allele Identifier: CA360810164

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*9A>C	ENSP00000388838.2:n.*9A>C
ENST00000435065.7:c.1672A>C	ENSP00000402760.2:p.Lys558Gln
ENST00000448810.6:c.*452A>C	ENSP00000401860.2:n.*452A>C
ENST00000685543.1:n.1741A>C
ENST00000686757.1:c.*764A>C	ENSP00000510721.1:n.*764A>C
ENST00000686868.1:n.592A>C
ENST00000687740.1:n.4285A>C
ENST00000688151.1:n.2910A>C
ENST00000689271.1:c.1447A>C	ENSP00000510797.1:p.Lys483Gln
ENST00000690900.1:c.*764A>C	ENSP00000510703.1:n.*764A>C
ENST00000692212.1:n.4740A>C
ENST00000692355.1:c.853A>C
ENST00000692413.1:c.1582A>C	ENSP00000509374.1:p.Lys528Gln
ENST00000692825.1:c.1668A>C	ENSP00000509447.1:n.1668A>C
ENST00000693308.1:c.1648A>C	ENSP00000509770.1:p.Lys550Gln
ENST00000693763.1:n.2760A>C
ENST00000245407.8:c.1600A>C MANE Select	ENSP00000245407.3:p.Lys534Gln
ENST00000245407.7:c.1600A>C	ENSP00000245407.3:p.Lys534Gln
ENST00000435065.6:c.1672A>C	ENSP00000402760.2:p.Lys558Gln
ENST00000447841.5:c.444A>C
ENST00000461013.5:n.9022A>C
ENST00000475308.1:n.2278A>C
NM_001308122.1:c.1672A>C	NP_001295051.1:p.Lys558Gln
NM_003060.3:c.1600A>C	NP_003051.1:p.Lys534Gln
XM_011543590.1:c.982A>C	XP_011541892.1:p.Lys328Gln
XR_948290.1:n.1726A>C
XM_011543590.2:c.982A>C	XP_011541892.1:p.Lys328Gln
XM_017009778.2:c.1072A>C	XP_016865267.1:p.Lys358Gln
XR_001742215.1:n.1855A>C
XR_001742216.1:n.1874A>C
XR_427718.2:n.1960A>C
XR_948290.2:n.1726A>C
XR_948291.2:n.1954A>C
NM_003060.4:c.1600A>C MANE Select	NP_003051.1:p.Lys534Gln
NM_001308122.2:c.1672A>C	NP_001295051.1:p.Lys558Gln