Canonical Allele Identifier: CA2671391676

Gene: HERC5

Linked Data

• gnomAD v4: 4-88499876-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88499876T>C , CM000666.2:g.88499876T>C	GRCh38
NC_000004.11:g.89421027T>C , CM000666.1:g.89421027T>C	GRCh37
NC_000004.10:g.89640050T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264350.8:c.2445-50T>C MANE Select	ENSP00000264350.3:n.2445-50T>C
ENST00000264350.7:c.2445-50T>C	ENSP00000264350.3:n.2445-50T>C
ENST00000502913.1:n.1166-50T>C
ENST00000508159.1:c.1359-50T>C	ENSP00000424129.1:n.1359-50T>C
ENST00000510223.5:n.1933-50T>C
NM_016323.3:c.2445-50T>C	NP_057407.2:n.2445-50T>C
XM_011532022.1:c.2220-50T>C	XP_011530324.1:n.2220-50T>C
XM_011532023.1:c.2157-50T>C	XP_011530325.1:n.2157-50T>C
XM_011532022.2:c.2673-50T>C	XP_011530324.2:n.2673-50T>C
NM_016323.4:c.2445-50T>C MANE Select	NP_057407.2:n.2445-50T>C