Canonical Allele Identifier: CA7605296

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.63678257T>C , CM000677.2:g.63678257T>C	GRCh38
NC_000015.9:g.63970456T>C , CM000677.1:g.63970456T>C	GRCh37
NC_000015.8:g.61757509T>C	NCBI36
NG_046958.1:g.160693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443617.7:c.6658A>G MANE Select	ENSP00000390158.2:p.Ile2220Val
ENST00000443617.6:c.6658A>G	ENSP00000390158.2:p.Ile2220Val
NM_003922.3:c.6658A>G	NP_003913.3:p.Ile2220Val
XM_011522138.1:c.6685A>G	XP_011520440.1:p.Ile2229Val
XM_011522139.1:c.6685A>G	XP_011520441.1:p.Ile2229Val
XM_011522140.1:c.6685A>G	XP_011520442.1:p.Ile2229Val
XM_011522141.1:c.6685A>G	XP_011520443.1:p.Ile2229Val
XM_011522142.1:c.6682A>G	XP_011520444.1:p.Ile2228Val
XM_011522143.1:c.6685A>G	XP_011520445.1:p.Ile2229Val
XM_011522144.1:c.6685A>G	XP_011520446.1:p.Ile2229Val
XM_011522145.1:c.6685A>G	XP_011520447.1:p.Ile2229Val
XM_011522146.1:c.6658A>G	XP_011520448.1:p.Ile2220Val
XM_011522147.1:c.6685A>G	XP_011520449.1:p.Ile2229Val
XM_011522148.1:c.6685A>G	XP_011520450.1:p.Ile2229Val
XM_011522149.1:c.6685A>G	XP_011520451.1:p.Ile2229Val
XM_011522150.1:c.6685A>G	XP_011520452.1:p.Ile2229Val
XM_011522151.1:c.6685A>G	XP_011520453.1:p.Ile2229Val
XM_011522152.1:c.6685A>G	XP_011520454.1:p.Ile2229Val
XR_931932.1:n.6830A>G
XR_931933.1:n.6830A>G
XR_931934.1:n.6830A>G
XR_931935.1:n.6830A>G
XM_017022699.2:c.6751A>G	XP_016878188.1:p.Ile2251Val
XM_017022700.2:c.6751A>G	XP_016878189.1:p.Ile2251Val
XM_017022701.2:c.6751A>G	XP_016878190.1:p.Ile2251Val
XM_017022702.2:c.6685A>G	XP_016878191.1:p.Ile2229Val
XM_017022703.2:c.6751A>G	XP_016878192.1:p.Ile2251Val
XM_017022704.2:c.6751A>G	XP_016878193.1:p.Ile2251Val
XM_017022705.2:c.6658A>G	XP_016878194.1:p.Ile2220Val
XM_017022706.2:c.6751A>G	XP_016878195.1:p.Ile2251Val
NM_003922.4:c.6658A>G MANE Select	NP_003913.3:p.Ile2220Val