Canonical Allele Identifier: CA360809902

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729454T>G (hg19) ; chr5:g.132393762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393762T>G , CM000667.2:g.132393762T>G	GRCh38
NC_000005.9:g.131729454T>G , CM000667.1:g.131729454T>G	GRCh37
NC_000005.8:g.131757353T>G	NCBI36
NG_008982.1:g.29054T>G
NG_008982.2:g.29059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-423T>G	ENSP00000388838.2:n.1292-423T>G
ENST00000435065.7:c.1609T>G	ENSP00000402760.2:p.Phe537Val
ENST00000448810.6:c.*389T>G	ENSP00000401860.2:n.*389T>G
ENST00000685543.1:n.1678T>G
ENST00000686757.1:c.*701T>G	ENSP00000510721.1:n.*701T>G
ENST00000686868.1:n.529T>G
ENST00000687740.1:n.4222T>G
ENST00000688151.1:n.2847T>G
ENST00000689271.1:c.1384T>G	ENSP00000510797.1:p.Phe462Val
ENST00000690900.1:c.*701T>G	ENSP00000510703.1:n.*701T>G
ENST00000692212.1:n.4677T>G
ENST00000692355.1:c.790T>G
ENST00000692413.1:c.1519T>G	ENSP00000509374.1:p.Phe507Val
ENST00000692825.1:c.1605T>G	ENSP00000509447.1:n.1605T>G
ENST00000693308.1:c.1585T>G	ENSP00000509770.1:p.Phe529Val
ENST00000693763.1:n.2697T>G
ENST00000245407.8:c.1537T>G MANE Select	ENSP00000245407.3:p.Phe513Val
ENST00000245407.7:c.1537T>G	ENSP00000245407.3:p.Phe513Val
ENST00000435065.6:c.1609T>G	ENSP00000402760.2:p.Phe537Val
ENST00000447841.5:c.381T>G
ENST00000448810.5:c.799T>G
ENST00000461013.5:n.8959T>G
ENST00000475308.1:n.2215T>G
NM_001308122.1:c.1609T>G	NP_001295051.1:p.Phe537Val
NM_003060.3:c.1537T>G	NP_003051.1:p.Phe513Val
XM_011543590.1:c.919T>G	XP_011541892.1:p.Phe307Val
XR_948290.1:n.1663T>G
XM_011543590.2:c.919T>G	XP_011541892.1:p.Phe307Val
XM_017009778.2:c.1009T>G	XP_016865267.1:p.Phe337Val
XR_001742215.1:n.1792T>G
XR_001742216.1:n.1811T>G
XR_427718.2:n.1897T>G
XR_948290.2:n.1663T>G
XR_948291.2:n.1891T>G
NM_003060.4:c.1537T>G MANE Select	NP_003051.1:p.Phe513Val
NM_001308122.2:c.1609T>G	NP_001295051.1:p.Phe537Val