Canonical Allele Identifier: CA973736473

Gene: HAGH

Linked Data

• dbSNP Id: rs1403647986
• gnomAD v3: 16-1813982-C-G
• gnomAD v4: 16-1813982-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1813982C>G , CM000678.2:g.1813982C>G	GRCh38
NC_000016.9:g.1863983C>G , CM000678.1:g.1863983C>G	GRCh37
NC_000016.8:g.1803984C>G	NCBI36
NG_023249.1:g.18213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397356.8:c.747+2911G>C MANE Select	ENSP00000380514.3:n.747+2911G>C
ENST00000397353.6:c.603+2911G>C	ENSP00000380511.2:n.603+2911G>C
ENST00000397356.7:c.747+2911G>C	ENSP00000380514.3:n.747+2911G>C
ENST00000455446.6:c.638+2911G>C	ENSP00000406552.2:n.638+2911G>C
ENST00000564445.5:c.538+2911G>C
ENST00000566644.5:c.15+2911G>C	ENSP00000457986.1:n.15+2911G>C
ENST00000566709.5:c.603+2911G>C	ENSP00000455422.1:n.603+2911G>C
NM_001040427.1:c.603+2911G>C	NP_001035517.1:n.603+2911G>C
NM_001286249.1:c.638+2911G>C	NP_001273178.1:n.638+2911G>C
NM_005326.4:c.747+2911G>C	NP_005317.2:n.747+2911G>C
XM_011522469.1:c.747+2911G>C	XP_011520771.1:n.747+2911G>C
XM_011522470.1:c.638+2911G>C	XP_011520772.1:n.638+2911G>C
NM_001040427.2:c.603+2911G>C	NP_001035517.1:n.603+2911G>C
NM_001286249.2:c.638+2911G>C	NP_001273178.1:n.638+2911G>C
NM_001363912.1:c.747+2911G>C	NP_001350841.1:n.747+2911G>C
NM_001363914.1:c.603+2911G>C	NP_001350843.1:n.603+2911G>C
NM_005326.5:c.747+2911G>C	NP_005317.2:n.747+2911G>C
XM_011522470.3:c.638+2911G>C	XP_011520772.1:n.638+2911G>C
XM_024450249.1:c.494+2911G>C	XP_024306017.1:n.494+2911G>C
NM_005326.6:c.747+2911G>C MANE Select	NP_005317.2:n.747+2911G>C