Canonical Allele Identifier: CA7605961
Community Standard Title: NM_003922.4(HERC1):c.3743-8A>G
Gene: HERC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63718905T>C , CM000677.2:g.63718905T>C GRCh38
NC_000015.9:g.64011104T>C , CM000677.1:g.64011104T>C GRCh37
NC_000015.8:g.61798157T>C NCBI36
NG_046958.1:g.120045A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003922.4:c.3743-8A>G MANE Select NP_003913.3:n.3743-8A>G
ENST00000443617.7:c.3743-8A>G MANE Select ENSP00000390158.2:n.3743-8A>G
NM_003922.3:c.3743-8A>G NP_003913.3:n.3743-8A>G
ENST00000443617.6:c.3743-8A>G ENSP00000390158.2:n.3743-8A>G
ENST00000560983.1:n.77-8A>G
ENST00000561400.1:c.931-2432A>G ENSP00000453937.1:n.931-2432A>G
XM_011522138.1:c.3743-8A>G XP_011520440.1:n.3743-8A>G
XM_011522139.1:c.3743-8A>G XP_011520441.1:n.3743-8A>G
XM_011522140.1:c.3743-8A>G XP_011520442.1:n.3743-8A>G
XM_011522141.1:c.3743-8A>G XP_011520443.1:n.3743-8A>G
XM_011522142.1:c.3743-8A>G XP_011520444.1:n.3743-8A>G
XM_011522143.1:c.3743-8A>G XP_011520445.1:n.3743-8A>G
XM_011522144.1:c.3743-8A>G XP_011520446.1:n.3743-8A>G
XM_011522145.1:c.3743-8A>G XP_011520447.1:n.3743-8A>G
XM_011522146.1:c.3743-8A>G XP_011520448.1:n.3743-8A>G
XM_011522147.1:c.3743-8A>G XP_011520449.1:n.3743-8A>G
XM_011522148.1:c.3743-8A>G XP_011520450.1:n.3743-8A>G
XM_011522149.1:c.3743-8A>G XP_011520451.1:n.3743-8A>G
XM_011522150.1:c.3743-8A>G XP_011520452.1:n.3743-8A>G
XM_011522151.1:c.3743-8A>G XP_011520453.1:n.3743-8A>G
XM_011522152.1:c.3743-8A>G XP_011520454.1:n.3743-8A>G
XM_017022699.2:c.3743-8A>G XP_016878188.1:n.3743-8A>G
XM_017022700.2:c.3743-8A>G XP_016878189.1:n.3743-8A>G
XM_017022701.2:c.3743-8A>G XP_016878190.1:n.3743-8A>G
XM_017022702.2:c.3743-8A>G XP_016878191.1:n.3743-8A>G
XM_017022703.2:c.3743-8A>G XP_016878192.1:n.3743-8A>G
XM_017022704.2:c.3743-8A>G XP_016878193.1:n.3743-8A>G
XM_017022705.2:c.3743-8A>G XP_016878194.1:n.3743-8A>G
XM_017022706.2:c.3743-8A>G XP_016878195.1:n.3743-8A>G
XR_931932.1:n.3888-8A>G
XR_931933.1:n.3888-8A>G
XR_931934.1:n.3888-8A>G
XR_931935.1:n.3888-8A>G