Canonical Allele Identifier: CA3023607
Gene: H2AZ1 HGNC NCBI

Linked Data

dbSNP Id: rs752769937
gnomAD v3: 4-99949587-C-G
gnomAD v4: 4-99949587-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99949587C>G , CM000666.2:g.99949587C>G GRCh38
NC_000004.11:g.100870744C>G , CM000666.1:g.100870744C>G GRCh37
NC_000004.10:g.101089767C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296417.6:c.81+76G>C MANE Select ENSP00000296417.5:n.81+76G>C
ENST00000651623.1:c.81+76G>C ENSP00000498935.1:n.81+76G>C
ENST00000296417.5:c.81+76G>C ENSP00000296417.5:n.81+76G>C
ENST00000511203.1:n.713G>C
ENST00000511319.5:n.606+76G>C
ENST00000511348.1:n.342G>C
ENST00000527366.1:n.165+76G>C
ENST00000529158.5:n.130+76G>C
NM_002106.3:c.81+76G>C NP_002097.1:n.81+76G>C
NM_002106.4:c.81+76G>C MANE Select NP_002097.1:n.81+76G>C