Canonical Allele Identifier: CA360809915

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2153702
• ClinVar RCV Id: RCV003077744
• dbSNP Id: rs1457888691
• gnomAD v4: 5-132393766-G-A
• MyVariant Identifiers: chr5:g.131729458G>A (hg19) ; chr5:g.132393766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393766G>A , CM000667.2:g.132393766G>A	GRCh38
NC_000005.9:g.131729458G>A , CM000667.1:g.131729458G>A	GRCh37
NC_000005.8:g.131757357G>A	NCBI36
NG_008982.1:g.29058G>A
NG_008982.2:g.29063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-419G>A	ENSP00000388838.2:n.1292-419G>A
ENST00000435065.7:c.1613G>A	ENSP00000402760.2:p.Gly538Asp
ENST00000448810.6:c.*393G>A	ENSP00000401860.2:n.*393G>A
ENST00000685543.1:n.1682G>A
ENST00000686757.1:c.*705G>A	ENSP00000510721.1:n.*705G>A
ENST00000686868.1:n.533G>A
ENST00000687740.1:n.4226G>A
ENST00000688151.1:n.2851G>A
ENST00000689271.1:c.1388G>A	ENSP00000510797.1:p.Gly463Asp
ENST00000690900.1:c.*705G>A	ENSP00000510703.1:n.*705G>A
ENST00000692212.1:n.4681G>A
ENST00000692355.1:c.794G>A
ENST00000692413.1:c.1523G>A	ENSP00000509374.1:p.Gly508Asp
ENST00000692825.1:c.1609G>A	ENSP00000509447.1:n.1609G>A
ENST00000693308.1:c.1589G>A	ENSP00000509770.1:p.Gly530Asp
ENST00000693763.1:n.2701G>A
ENST00000245407.8:c.1541G>A MANE Select	ENSP00000245407.3:p.Gly514Asp
ENST00000245407.7:c.1541G>A	ENSP00000245407.3:p.Gly514Asp
ENST00000435065.6:c.1613G>A	ENSP00000402760.2:p.Gly538Asp
ENST00000447841.5:c.385G>A
ENST00000448810.5:c.803G>A
ENST00000461013.5:n.8963G>A
ENST00000475308.1:n.2219G>A
NM_001308122.1:c.1613G>A	NP_001295051.1:p.Gly538Asp
NM_003060.3:c.1541G>A	NP_003051.1:p.Gly514Asp
XM_011543590.1:c.923G>A	XP_011541892.1:p.Gly308Asp
XR_948290.1:n.1667G>A
XM_011543590.2:c.923G>A	XP_011541892.1:p.Gly308Asp
XM_017009778.2:c.1013G>A	XP_016865267.1:p.Gly338Asp
XR_001742215.1:n.1796G>A
XR_001742216.1:n.1815G>A
XR_427718.2:n.1901G>A
XR_948290.2:n.1667G>A
XR_948291.2:n.1895G>A
NM_003060.4:c.1541G>A MANE Select	NP_003051.1:p.Gly514Asp
NM_001308122.2:c.1613G>A	NP_001295051.1:p.Gly538Asp