Canonical Allele Identifier: CA2578142894

Gene: HERC5

Linked Data

• gnomAD v4: 4-88499854-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88499854C>A , CM000666.2:g.88499854C>A	GRCh38
NC_000004.11:g.89421005C>A , CM000666.1:g.89421005C>A	GRCh37
NC_000004.10:g.89640028C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264350.8:c.2445-72C>A MANE Select	ENSP00000264350.3:n.2445-72C>A
ENST00000264350.7:c.2445-72C>A	ENSP00000264350.3:n.2445-72C>A
ENST00000502913.1:n.1166-72C>A
ENST00000508159.1:c.1359-72C>A	ENSP00000424129.1:n.1359-72C>A
ENST00000510223.5:n.1933-72C>A
NM_016323.3:c.2445-72C>A	NP_057407.2:n.2445-72C>A
XM_011532022.1:c.2220-72C>A	XP_011530324.1:n.2220-72C>A
XM_011532023.1:c.2157-72C>A	XP_011530325.1:n.2157-72C>A
XM_011532022.2:c.2673-72C>A	XP_011530324.2:n.2673-72C>A
NM_016323.4:c.2445-72C>A MANE Select	NP_057407.2:n.2445-72C>A