Canonical Allele Identifier: CA383138148

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124921442T>C , CM000673.2:g.124921442T>C	GRCh38
NC_000011.9:g.124791338T>C , CM000673.1:g.124791338T>C	GRCh37
NC_000011.8:g.124296548T>C	NCBI36
NG_029603.1:g.19971A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.949-2A>G MANE Select	NP_689935.2:n.949-2A>G
ENST00000298251.5:c.949-2A>G MANE Select	ENSP00000298251.4:n.949-2A>G
NM_152722.4:c.949-2A>G	NP_689935.2:n.949-2A>G
ENST00000298251.4:c.949-2A>G	ENSP00000298251.4:n.949-2A>G
ENST00000703807.1:c.1105-2A>G	ENSP00000515485.1:n.1105-2A>G
XM_005271449.1:c.946-2A>G	XP_005271506.1:n.946-2A>G
XM_005271449.2:c.946-2A>G	XP_005271506.1:n.946-2A>G
XM_006718786.1:c.970-2A>G	XP_006718849.1:n.970-2A>G
XM_011542669.1:c.967-2A>G	XP_011540971.1:n.967-2A>G
XM_017017361.1:c.1105-2A>G	XP_016872850.1:n.1105-2A>G
XR_001748429.2:n.325-21958T>C