Canonical Allele Identifier: CA8681906

Gene: PTRH2

Linked Data

• dbSNP Id: rs762188817
• ExAC: 17:57774956 T / G
• gnomAD v2: 17-57774956-T-G
• gnomAD v4: 17-59697595-T-G
• MyVariant Identifiers: chr17:g.57774956T>G (hg19) ; chr17:g.59697595T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697595T>G , CM000679.2:g.59697595T>G	GRCh38
NC_000017.10:g.57774956T>G , CM000679.1:g.57774956T>G	GRCh37
NC_000017.9:g.55129738T>G	NCBI36
NG_042064.1:g.15004A>C
NG_047043.1:g.82907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.384A>C MANE Select	ENSP00000376758.2:p.Ala128=
ENST00000393038.2:c.384A>C	ENSP00000376758.2:p.Ala128=
ENST00000409433.2:c.387A>C	ENSP00000387180.2:p.Ala129=
ENST00000470557.2:c.384A>C	ENSP00000464327.1:p.Ala128=
ENST00000587935.1:n.45+9776A>C
NM_001015509.2:c.387A>C	NP_001015509.1:p.Ala129=
NM_016077.3:c.384A>C	NP_057161.1:p.Ala128=
NM_016077.4:c.384A>C	NP_057161.1:p.Ala128=
XM_011524887.1:c.384A>C	XP_011523189.1:p.Ala128=
XM_011524887.2:c.384A>C	XP_011523189.1:p.Ala128=
NM_016077.5:c.384A>C MANE Select	NP_057161.1:p.Ala128=
NM_001015509.3:c.387A>C	NP_001015509.1:p.Ala129=