Canonical Allele Identifier: CA3023633
Gene: H2AZ1 HGNC NCBI

Linked Data

dbSNP Id: rs748156598
gnomAD v3: 4-99949708-C-T
gnomAD v4: 4-99949708-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99949708C>T , CM000666.2:g.99949708C>T GRCh38
NC_000004.11:g.100870865C>T , CM000666.1:g.100870865C>T GRCh37
NC_000004.10:g.101089888C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296417.6:c.36G>A MANE Select ENSP00000296417.5:p.Lys12=
ENST00000651623.1:c.36G>A ENSP00000498935.1:p.Lys12=
ENST00000296417.5:c.36G>A ENSP00000296417.5:p.Lys12=
ENST00000511203.1:n.592G>A
ENST00000511319.5:n.561G>A
ENST00000511348.1:n.221G>A
ENST00000527366.1:n.120G>A
ENST00000529158.5:n.85G>A
NM_002106.3:c.36G>A NP_002097.1:p.Lys12=
NM_002106.4:c.36G>A MANE Select NP_002097.1:p.Lys12=