Canonical Allele Identifier: CA383142972

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124924796T>C , CM000673.2:g.124924796T>C	GRCh38
NC_000011.9:g.124794692T>C , CM000673.1:g.124794692T>C	GRCh37
NC_000011.8:g.124299902T>C	NCBI36
NG_029603.1:g.16617A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.359A>G MANE Select	NP_689935.2:p.Tyr120Cys
ENST00000298251.5:c.359A>G MANE Select	ENSP00000298251.4:p.Tyr120Cys
NM_152722.4:c.359A>G	NP_689935.2:p.Tyr120Cys
ENST00000298251.4:c.359A>G	ENSP00000298251.4:p.Tyr120Cys
ENST00000526273.1:n.131A>G
ENST00000528971.1:n.765A>G
ENST00000703807.1:c.359A>G	ENSP00000515485.1:p.Tyr120Cys
XM_005271449.1:c.359A>G	XP_005271506.1:p.Tyr120Cys
XM_005271449.2:c.359A>G	XP_005271506.1:p.Tyr120Cys
XM_006718786.1:c.359A>G	XP_006718849.1:p.Tyr120Cys
XM_011542669.1:c.359A>G	XP_011540971.1:p.Tyr120Cys
XM_017017361.1:c.359A>G	XP_016872850.1:p.Tyr120Cys
XR_001748429.2:n.325-18604T>C