Canonical Allele Identifier: CA360805101

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2201558
• ClinVar RCV Id: RCV002655012
• dbSNP Id: rs1243155490
• gnomAD v2: 5-131721100-G-A
• gnomAD v4: 5-132385408-G-A
• MyVariant Identifiers: chr5:g.131721100G>A (hg19) ; chr5:g.132385408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385408G>A , CM000667.2:g.132385408G>A	GRCh38
NC_000005.9:g.131721100G>A , CM000667.1:g.131721100G>A	GRCh37
NC_000005.8:g.131748999G>A	NCBI36
NG_008982.1:g.20700G>A
NG_008982.2:g.20705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1094G>A	ENSP00000388838.2:n.665+1094G>A
ENST00000435065.7:c.805G>A	ENSP00000402760.2:p.Val269Met
ENST00000448810.6:c.733G>A	ENSP00000401860.2:p.Val245Met
ENST00000686757.1:c.752G>A	ENSP00000510721.1:p.Gly251Asp
ENST00000687740.1:n.1893G>A
ENST00000688151.1:n.1925G>A
ENST00000689271.1:c.671+1088G>A	ENSP00000510797.1:n.671+1088G>A
ENST00000690900.1:c.704G>A	ENSP00000510703.1:p.Gly235Asp
ENST00000692212.1:n.559G>A
ENST00000692355.1:c.204+1107G>A
ENST00000692413.1:c.752G>A	ENSP00000509374.1:p.Gly251Asp
ENST00000692825.1:c.801G>A	ENSP00000509447.1:n.801G>A
ENST00000693308.1:c.746G>A	ENSP00000509770.1:p.Gly249Asp
ENST00000693763.1:n.1893G>A
ENST00000245407.8:c.733G>A MANE Select	ENSP00000245407.3:p.Val245Met
ENST00000245407.7:c.733G>A	ENSP00000245407.3:p.Val245Met
ENST00000415928.5:c.502G>A	ENSP00000388838.1:p.Val168Met
ENST00000435065.6:c.805G>A	ENSP00000402760.2:p.Val269Met
ENST00000437841.6:c.*48G>A	ENSP00000400553.1:n.*48G>A
ENST00000448810.5:c.81G>A
ENST00000461013.5:n.8155G>A
NM_001308122.1:c.805G>A	NP_001295051.1:p.Val269Met
NM_003060.3:c.733G>A	NP_003051.1:p.Val245Met
XM_011543590.1:c.115G>A	XP_011541892.1:p.Val39Met
XR_427718.1:n.1093G>A
XR_948290.1:n.1074G>A
XR_948291.1:n.1087G>A
XM_011543590.2:c.115G>A	XP_011541892.1:p.Val39Met
XM_017009778.2:c.205G>A	XP_016865267.1:p.Val69Met
XR_001742215.1:n.1074G>A
XR_001742216.1:n.1093G>A
XR_427718.2:n.1093G>A
XR_948290.2:n.1074G>A
XR_948291.2:n.1087G>A
NM_003060.4:c.733G>A MANE Select	NP_003051.1:p.Val245Met
NM_001308122.2:c.805G>A	NP_001295051.1:p.Val269Met