Canonical Allele Identifier: CA290680370

Gene: HAP1

Linked Data

• dbSNP Id: rs969680701
• gnomAD v4: 17-41727157-G-C
• MyVariant Identifiers: chr17:g.41727157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727157G>C , CM000679.2:g.41727157G>C	GRCh38
NC_000017.10:g.39883409G>C , CM000679.1:g.39883409G>C	GRCh37
NC_000017.9:g.37136935G>C	NCBI36
NG_009090.2:g.64556C>G , LRG_401:g.64556C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1276-13C>G MANE Select	ENSP00000334002.4:n.1276-13C>G
ENST00000310778.5:c.1432-13C>G	ENSP00000309392.5:n.1432-13C>G
ENST00000341193.9:c.1225-13C>G	ENSP00000343170.5:n.1225-13C>G
ENST00000347901.8:c.1276-13C>G	ENSP00000334002.4:n.1276-13C>G
ENST00000393939.6:c.1201-13C>G	ENSP00000377513.2:n.1201-13C>G
NM_001079870.1:c.1225-13C>G	NP_001073339.1:n.1225-13C>G
NM_001079871.1:c.1201-13C>G	NP_001073340.1:n.1201-13C>G
NM_177977.2:c.1276-13C>G	NP_817084.2:n.1276-13C>G
NM_001367459.1:c.1372-13C>G	NP_001354388.1:n.1372-13C>G
NM_001367460.1:c.1336-13C>G	NP_001354389.1:n.1336-13C>G
NM_001367461.1:c.1201-13C>G	NP_001354390.1:n.1201-13C>G
NM_001367462.1:c.1201-13C>G	NP_001354391.1:n.1201-13C>G
NM_177977.3:c.1276-13C>G MANE Select	NP_817084.2:n.1276-13C>G