Canonical Allele Identifier: CA381167993
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64750506-T-G
MyVariant Identifiers: chr11:g.64517978T>G (hg19) chr11:g.64750506T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750506T>G , CM000673.2:g.64750506T>G GRCh38
NC_000011.9:g.64517978T>G , CM000673.1:g.64517978T>G GRCh37
NC_000011.8:g.64274554T>G NCBI36
NG_013018.1:g.15210A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2047A>C MANE Select ENSP00000164139.3:p.Met683Leu
ENST00000164139.3:c.2047A>C ENSP00000164139.3:p.Met683Leu
ENST00000377432.7:c.1783A>C ENSP00000366650.3:p.Met595Leu
NM_001164716.1:c.1783A>C NP_001158188.1:p.Met595Leu
NM_005609.2:c.2047A>C NP_005600.1:p.Met683Leu
NM_005609.3:c.2047A>C NP_005600.1:p.Met683Leu
NM_005609.4:c.2047A>C MANE Select NP_005600.1:p.Met683Leu
Search 100 bp 5'
Search 100 bp 3'