Canonical Allele Identifier: CA387298868

Gene: PUS1

Linked Data

• dbSNP Id: rs1375969282
• gnomAD v3: 12-131941387-G-C
• gnomAD v4: 12-131941387-G-C
• MyVariant Identifiers: chr12:g.132425932G>C (hg19) ; chr12:g.131941387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941387G>C , CM000674.2:g.131941387G>C	GRCh38
NC_000012.11:g.132425932G>C , CM000674.1:g.132425932G>C	GRCh37
NC_000012.10:g.130991885G>C	NCBI36
NG_013039.1:g.17188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.640G>C MANE Select	ENSP00000365837.3:p.Asp214His
ENST00000322060.9:c.556G>C	ENSP00000324726.5:p.Asp186His
ENST00000376649.7:c.640G>C	ENSP00000365837.3:p.Asp214His
ENST00000443358.6:c.556G>C	ENSP00000392451.2:p.Asp186His
ENST00000535067.5:c.358-2152G>C	ENSP00000443969.1:n.358-2152G>C
ENST00000537484.1:c.565G>C	ENSP00000440179.1:p.Asp189His
ENST00000542167.2:c.481G>C	ENSP00000438948.1:p.Asp161His
ENST00000543754.1:n.461G>C
NM_001002019.2:c.556G>C	NP_001002019.1:p.Asp186His
NM_001002020.2:c.556G>C	NP_001002020.1:p.Asp186His
NM_025215.5:c.640G>C	NP_079491.2:p.Asp214His
XM_011538768.1:c.241G>C	XP_011537070.1:p.Asp81His
XM_011538768.3:c.241G>C	XP_011537070.1:p.Asp81His
XR_001748872.1:n.1095G>C
NM_001002019.3:c.556G>C	NP_001002019.1:p.Asp186His
NM_001002020.3:c.556G>C	NP_001002020.1:p.Asp186His
NM_025215.6:c.640G>C MANE Select	NP_079491.2:p.Asp214His