Canonical Allele Identifier: CA360810172

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729892A>C (hg19) ; chr5:g.132394200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394200A>C , CM000667.2:g.132394200A>C	GRCh38
NC_000005.9:g.131729892A>C , CM000667.1:g.131729892A>C	GRCh37
NC_000005.8:g.131757791A>C	NCBI36
NG_008982.1:g.29492A>C
NG_008982.2:g.29497A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*11A>C	ENSP00000388838.2:n.*11A>C
ENST00000435065.7:c.1674A>C	ENSP00000402760.2:p.Lys558Asn
ENST00000448810.6:c.*454A>C	ENSP00000401860.2:n.*454A>C
ENST00000685543.1:n.1743A>C
ENST00000686757.1:c.*766A>C	ENSP00000510721.1:n.*766A>C
ENST00000686868.1:n.594A>C
ENST00000687740.1:n.4287A>C
ENST00000688151.1:n.2912A>C
ENST00000689271.1:c.1449A>C	ENSP00000510797.1:p.Lys483Asn
ENST00000690900.1:c.*766A>C	ENSP00000510703.1:n.*766A>C
ENST00000692212.1:n.4742A>C
ENST00000692355.1:c.855A>C
ENST00000692413.1:c.1584A>C	ENSP00000509374.1:p.Lys528Asn
ENST00000692825.1:c.1670A>C	ENSP00000509447.1:n.1670A>C
ENST00000693308.1:c.1650A>C	ENSP00000509770.1:p.Lys550Asn
ENST00000693763.1:n.2762A>C
ENST00000245407.8:c.1602A>C MANE Select	ENSP00000245407.3:p.Lys534Asn
ENST00000245407.7:c.1602A>C	ENSP00000245407.3:p.Lys534Asn
ENST00000435065.6:c.1674A>C	ENSP00000402760.2:p.Lys558Asn
ENST00000447841.5:c.446A>C
ENST00000461013.5:n.9024A>C
ENST00000475308.1:n.2280A>C
NM_001308122.1:c.1674A>C	NP_001295051.1:p.Lys558Asn
NM_003060.3:c.1602A>C	NP_003051.1:p.Lys534Asn
XM_011543590.1:c.984A>C	XP_011541892.1:p.Lys328Asn
XR_948290.1:n.1728A>C
XM_011543590.2:c.984A>C	XP_011541892.1:p.Lys328Asn
XM_017009778.2:c.1074A>C	XP_016865267.1:p.Lys358Asn
XR_001742215.1:n.1857A>C
XR_001742216.1:n.1876A>C
XR_427718.2:n.1962A>C
XR_948290.2:n.1728A>C
XR_948291.2:n.1956A>C
NM_003060.4:c.1602A>C MANE Select	NP_003051.1:p.Lys534Asn
NM_001308122.2:c.1674A>C	NP_001295051.1:p.Lys558Asn