Canonical Allele Identifier: CA129879

Gene: SRP72

Linked Data

• ClinVar Variation Id: 31660
• ClinVar RCV Id: RCV000024353 ; RCV001852568
• dbSNP Id: rs387907189
• ExAC: 4:57342846 G / A
• gnomAD v2: 4-57342846-G-A
• gnomAD v3: 4-56476680-G-A
• gnomAD v4: 4-56476680-G-A
• MyVariant Identifiers: chr4:g.57342846G>A (hg19) ; chr4:g.56476680G>A (hg38)
• PubMed: PMID:22541560

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56476680G>A , CM000666.2:g.56476680G>A	GRCh38
NC_000004.11:g.57342846G>A , CM000666.1:g.57342846G>A	GRCh37
NC_000004.10:g.57037603G>A	NCBI36
NG_032796.1:g.14085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505314.2:c.520G>A
ENST00000510663.6:c.620G>A	ENSP00000424576.1:p.Arg207His
ENST00000642900.1:c.620G>A MANE Select	ENSP00000495128.1:p.Arg207His
ENST00000646537.1:n.1004G>A
ENST00000342756.9:c.620G>A	ENSP00000342181.5:p.Arg207His
ENST00000505314.1:c.186G>A
ENST00000510663.5:c.620G>A	ENSP00000424576.1:p.Arg207His
NM_001267722.1:c.620G>A	NP_001254651.1:p.Arg207His
NM_006947.3:c.620G>A	NP_008878.3:p.Arg207His
XM_005265765.3:c.620G>A	XP_005265822.2:p.Arg207His
NM_006947.4:c.620G>A MANE Select	NP_008878.3:p.Arg207His
NR_151856.1:n.660G>A
XM_024454192.1:c.620G>A	XP_024309960.1:p.Arg207His
NM_001267722.2:c.620G>A	NP_001254651.1:p.Arg207His
NR_151856.2:n.639G>A