Canonical Allele Identifier: CA2671391599

Gene: HERC5

Linked Data

• gnomAD v4: 4-88499791-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88499791G>C , CM000666.2:g.88499791G>C	GRCh38
NC_000004.11:g.89420942G>C , CM000666.1:g.89420942G>C	GRCh37
NC_000004.10:g.89639965G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264350.8:c.2445-135G>C MANE Select	ENSP00000264350.3:n.2445-135G>C
ENST00000264350.7:c.2445-135G>C	ENSP00000264350.3:n.2445-135G>C
ENST00000502913.1:n.1166-135G>C
ENST00000508159.1:c.1359-135G>C	ENSP00000424129.1:n.1359-135G>C
ENST00000510223.5:n.1933-135G>C
NM_016323.3:c.2445-135G>C	NP_057407.2:n.2445-135G>C
XM_011532022.1:c.2220-135G>C	XP_011530324.1:n.2220-135G>C
XM_011532023.1:c.2157-135G>C	XP_011530325.1:n.2157-135G>C
XM_011532022.2:c.2673-135G>C	XP_011530324.2:n.2673-135G>C
NM_016323.4:c.2445-135G>C MANE Select	NP_057407.2:n.2445-135G>C