Canonical Allele Identifier: CA360805028

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707678
• ClinVar RCV Id: RCV002286657
• dbSNP Id: rs1457258524
• gnomAD v2: 5-131721067-G-C
• gnomAD v4: 5-132385375-G-C
• MyVariant Identifiers: chr5:g.131721067G>C (hg19) ; chr5:g.132385375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385375G>C , CM000667.2:g.132385375G>C	GRCh38
NC_000005.9:g.131721067G>C , CM000667.1:g.131721067G>C	GRCh37
NC_000005.8:g.131748966G>C	NCBI36
NG_008982.1:g.20667G>C
NG_008982.2:g.20672G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1061G>C	ENSP00000388838.2:n.665+1061G>C
ENST00000435065.7:c.772G>C	ENSP00000402760.2:p.Gly258Arg
ENST00000448810.6:c.700G>C	ENSP00000401860.2:p.Gly234Arg
ENST00000686757.1:c.719G>C	ENSP00000510721.1:p.Arg240Thr
ENST00000687740.1:n.1860G>C
ENST00000688151.1:n.1892G>C
ENST00000689271.1:c.671+1055G>C	ENSP00000510797.1:n.671+1055G>C
ENST00000690900.1:c.672-1G>C	ENSP00000510703.1:n.672-1G>C
ENST00000692212.1:n.526G>C
ENST00000692355.1:c.204+1074G>C
ENST00000692413.1:c.719G>C	ENSP00000509374.1:p.Arg240Thr
ENST00000692825.1:c.768G>C	ENSP00000509447.1:n.768G>C
ENST00000693308.1:c.713G>C	ENSP00000509770.1:p.Arg238Thr
ENST00000693763.1:n.1860G>C
ENST00000245407.8:c.700G>C MANE Select	ENSP00000245407.3:p.Gly234Arg
ENST00000245407.7:c.700G>C	ENSP00000245407.3:p.Gly234Arg
ENST00000415928.5:c.469G>C	ENSP00000388838.1:p.Gly157Arg
ENST00000435065.6:c.772G>C	ENSP00000402760.2:p.Gly258Arg
ENST00000437841.6:c.*15G>C	ENSP00000400553.1:n.*15G>C
ENST00000448810.5:c.48G>C
ENST00000461013.5:n.8122G>C
NM_001308122.1:c.772G>C	NP_001295051.1:p.Gly258Arg
NM_003060.3:c.700G>C	NP_003051.1:p.Gly234Arg
XM_011543590.1:c.82G>C	XP_011541892.1:p.Gly28Arg
XR_427718.1:n.1060G>C
XR_948290.1:n.1041G>C
XR_948291.1:n.1054G>C
XM_011543590.2:c.82G>C	XP_011541892.1:p.Gly28Arg
XM_017009778.2:c.172G>C	XP_016865267.1:p.Gly58Arg
XR_001742215.1:n.1041G>C
XR_001742216.1:n.1060G>C
XR_427718.2:n.1060G>C
XR_948290.2:n.1041G>C
XR_948291.2:n.1054G>C
NM_003060.4:c.700G>C MANE Select	NP_003051.1:p.Gly234Arg
NM_001308122.2:c.772G>C	NP_001295051.1:p.Gly258Arg