Canonical Allele Identifier: CA276719931

Gene: HAGH

Linked Data

• dbSNP Id: rs1020582107
• gnomAD v3: 16-1814132-G-C
• gnomAD v4: 16-1814132-G-C
• MyVariant Identifiers: chr16:g.1864133G>C (hg19) ; chr16:g.1814132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1814132G>C , CM000678.2:g.1814132G>C	GRCh38
NC_000016.9:g.1864133G>C , CM000678.1:g.1864133G>C	GRCh37
NC_000016.8:g.1804134G>C	NCBI36
NG_023249.1:g.18063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397356.8:c.747+2761C>G MANE Select	ENSP00000380514.3:n.747+2761C>G
ENST00000397353.6:c.603+2761C>G	ENSP00000380511.2:n.603+2761C>G
ENST00000397356.7:c.747+2761C>G	ENSP00000380514.3:n.747+2761C>G
ENST00000455446.6:c.638+2761C>G	ENSP00000406552.2:n.638+2761C>G
ENST00000564445.5:c.538+2761C>G
ENST00000566644.5:c.15+2761C>G	ENSP00000457986.1:n.15+2761C>G
ENST00000566709.5:c.603+2761C>G	ENSP00000455422.1:n.603+2761C>G
NM_001040427.1:c.603+2761C>G	NP_001035517.1:n.603+2761C>G
NM_001286249.1:c.638+2761C>G	NP_001273178.1:n.638+2761C>G
NM_005326.4:c.747+2761C>G	NP_005317.2:n.747+2761C>G
XM_011522469.1:c.747+2761C>G	XP_011520771.1:n.747+2761C>G
XM_011522470.1:c.638+2761C>G	XP_011520772.1:n.638+2761C>G
NM_001040427.2:c.603+2761C>G	NP_001035517.1:n.603+2761C>G
NM_001286249.2:c.638+2761C>G	NP_001273178.1:n.638+2761C>G
NM_001363912.1:c.747+2761C>G	NP_001350841.1:n.747+2761C>G
NM_001363914.1:c.603+2761C>G	NP_001350843.1:n.603+2761C>G
NM_005326.5:c.747+2761C>G	NP_005317.2:n.747+2761C>G
XM_011522470.3:c.638+2761C>G	XP_011520772.1:n.638+2761C>G
XM_024450249.1:c.494+2761C>G	XP_024306017.1:n.494+2761C>G
NM_005326.6:c.747+2761C>G MANE Select	NP_005317.2:n.747+2761C>G