Canonical Allele Identifier: CA2792428366

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747148G>C , CM000673.2:g.64747148G>C	GRCh38
NC_000011.9:g.64514620G>C , CM000673.1:g.64514620G>C	GRCh37
NC_000011.8:g.64271196G>C	NCBI36
NG_007574.1:g.3309C>G , LRG_100:g.3309C>G
NG_013018.1:g.18568C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2312+76C>G MANE Select	ENSP00000164139.3:n.2312+76C>G
ENST00000164139.3:c.2312+76C>G	ENSP00000164139.3:n.2312+76C>G
ENST00000377432.7:c.2048+76C>G	ENSP00000366650.3:n.2048+76C>G
ENST00000483742.1:n.1665+76C>G
NM_001164716.1:c.2048+76C>G	NP_001158188.1:n.2048+76C>G
NM_005609.2:c.2312+76C>G	NP_005600.1:n.2312+76C>G
NM_005609.3:c.2312+76C>G	NP_005600.1:n.2312+76C>G
NM_005609.4:c.2312+76C>G MANE Select	NP_005600.1:n.2312+76C>G