Canonical Allele Identifier: CA360809692

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729394A>T (hg19) ; chr5:g.132393702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393702A>T , CM000667.2:g.132393702A>T	GRCh38
NC_000005.9:g.131729394A>T , CM000667.1:g.131729394A>T	GRCh37
NC_000005.8:g.131757293A>T	NCBI36
NG_008982.1:g.28994A>T
NG_008982.2:g.28999A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-483A>T	ENSP00000388838.2:n.1292-483A>T
ENST00000435065.7:c.1549A>T	ENSP00000402760.2:p.Ile517Phe
ENST00000448810.6:c.*329A>T	ENSP00000401860.2:n.*329A>T
ENST00000685543.1:n.1618A>T
ENST00000686757.1:c.*641A>T	ENSP00000510721.1:n.*641A>T
ENST00000686868.1:n.469A>T
ENST00000687740.1:n.4162A>T
ENST00000688151.1:n.2787A>T
ENST00000689271.1:c.1324A>T	ENSP00000510797.1:p.Ile442Phe
ENST00000690900.1:c.*641A>T	ENSP00000510703.1:n.*641A>T
ENST00000692212.1:n.4617A>T
ENST00000692355.1:c.730A>T
ENST00000692413.1:c.1459A>T	ENSP00000509374.1:p.Ile487Phe
ENST00000692825.1:c.1545A>T	ENSP00000509447.1:n.1545A>T
ENST00000693308.1:c.1525A>T	ENSP00000509770.1:p.Ile509Phe
ENST00000693763.1:n.2637A>T
ENST00000245407.8:c.1477A>T MANE Select	ENSP00000245407.3:p.Ile493Phe
ENST00000245407.7:c.1477A>T	ENSP00000245407.3:p.Ile493Phe
ENST00000435065.6:c.1549A>T	ENSP00000402760.2:p.Ile517Phe
ENST00000447841.5:c.321A>T
ENST00000448810.5:c.739A>T
ENST00000461013.5:n.8899A>T
ENST00000475308.1:n.2155A>T
NM_001308122.1:c.1549A>T	NP_001295051.1:p.Ile517Phe
NM_003060.3:c.1477A>T	NP_003051.1:p.Ile493Phe
XM_011543590.1:c.859A>T	XP_011541892.1:p.Ile287Phe
XR_948290.1:n.1603A>T
XM_011543590.2:c.859A>T	XP_011541892.1:p.Ile287Phe
XM_017009778.2:c.949A>T	XP_016865267.1:p.Ile317Phe
XR_001742215.1:n.1732A>T
XR_001742216.1:n.1751A>T
XR_427718.2:n.1837A>T
XR_948290.2:n.1603A>T
XR_948291.2:n.1831A>T
NM_003060.4:c.1477A>T MANE Select	NP_003051.1:p.Ile493Phe
NM_001308122.2:c.1549A>T	NP_001295051.1:p.Ile517Phe