Canonical Allele Identifier: CA7604299

Gene: HERC1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63645010C>G , CM000677.2:g.63645010C>G	GRCh38
NC_000015.9:g.63937209C>G , CM000677.1:g.63937209C>G	GRCh37
NC_000015.8:g.61724262C>G	NCBI36
NG_046958.1:g.193940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443617.7:c.11166G>C MANE Select	ENSP00000390158.2:p.Glu3722Asp
ENST00000443617.6:c.11166G>C	ENSP00000390158.2:p.Glu3722Asp
NM_003922.3:c.11166G>C	NP_003913.3:p.Glu3722Asp
XM_011522138.1:c.11244G>C	XP_011520440.1:p.Glu3748Asp
XM_011522139.1:c.11244G>C	XP_011520441.1:p.Glu3748Asp
XM_011522140.1:c.11244G>C	XP_011520442.1:p.Glu3748Asp
XM_011522141.1:c.11241G>C	XP_011520443.1:p.Glu3747Asp
XM_011522142.1:c.11241G>C	XP_011520444.1:p.Glu3747Asp
XM_011522143.1:c.11241G>C	XP_011520445.1:p.Glu3747Asp
XM_011522144.1:c.11223G>C	XP_011520446.1:p.Glu3741Asp
XM_011522145.1:c.11220G>C	XP_011520447.1:p.Glu3740Asp
XM_011522146.1:c.11217G>C	XP_011520448.1:p.Glu3739Asp
XM_011522147.1:c.11193G>C	XP_011520449.1:p.Glu3731Asp
XM_011522148.1:c.11244G>C	XP_011520450.1:p.Glu3748Asp
XM_011522149.1:c.11244G>C	XP_011520451.1:p.Glu3748Asp
XM_011522150.1:c.11244G>C	XP_011520452.1:p.Glu3748Asp
XR_931932.1:n.11389G>C
XR_931933.1:n.11389G>C
XR_931934.1:n.11389G>C
XR_931935.1:n.11389G>C
XM_017022699.2:c.11310G>C	XP_016878188.1:p.Glu3770Asp
XM_017022700.2:c.11274G>C	XP_016878189.1:p.Glu3758Asp
XM_017022701.2:c.11259G>C	XP_016878190.1:p.Glu3753Asp
XM_017022702.2:c.11259G>C	XP_016878191.1:p.Glu3753Asp
XM_017022703.2:c.11256G>C	XP_016878192.1:p.Glu3752Asp
XM_017022704.2:c.11238G>C	XP_016878193.1:p.Glu3746Asp
XM_017022705.2:c.11232G>C	XP_016878194.1:p.Glu3744Asp
NM_003922.4:c.11166G>C MANE Select	NP_003913.3:p.Glu3722Asp