Canonical Allele Identifier: CA357517030
Gene: H2AZ1 HGNC NCBI

Linked Data

gnomAD v4: 4-99949709-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99949709T>C , CM000666.2:g.99949709T>C GRCh38
NC_000004.11:g.100870866T>C , CM000666.1:g.100870866T>C GRCh37
NC_000004.10:g.101089889T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296417.6:c.35A>G MANE Select ENSP00000296417.5:p.Lys12Arg
ENST00000651623.1:c.35A>G ENSP00000498935.1:p.Lys12Arg
ENST00000296417.5:c.35A>G ENSP00000296417.5:p.Lys12Arg
ENST00000511203.1:n.591A>G
ENST00000511319.5:n.560A>G
ENST00000511348.1:n.220A>G
ENST00000527366.1:n.119A>G
ENST00000529158.5:n.84A>G
NM_002106.3:c.35A>G NP_002097.1:p.Lys12Arg
NM_002106.4:c.35A>G MANE Select NP_002097.1:p.Lys12Arg