Canonical Allele Identifier: CA2614192053

Gene: PYGM

Linked Data

• gnomAD v4: 11-64751301-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751301A>C , CM000673.2:g.64751301A>C	GRCh38
NC_000011.9:g.64518773A>C , CM000673.1:g.64518773A>C	GRCh37
NC_000011.8:g.64275349A>C	NCBI36
NG_013018.1:g.14415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1969+24T>G MANE Select	ENSP00000164139.3:n.1969+24T>G
ENST00000164139.3:c.1969+24T>G	ENSP00000164139.3:n.1969+24T>G
ENST00000377432.7:c.1705+24T>G	ENSP00000366650.3:n.1705+24T>G
ENST00000462303.1:n.317T>G
NM_001164716.1:c.1705+24T>G	NP_001158188.1:n.1705+24T>G
NM_005609.2:c.1969+24T>G	NP_005600.1:n.1969+24T>G
NM_005609.3:c.1969+24T>G	NP_005600.1:n.1969+24T>G
NM_005609.4:c.1969+24T>G MANE Select	NP_005600.1:n.1969+24T>G