Canonical Allele Identifier: CA100912206

Gene: HERC5

Linked Data

• dbSNP Id: rs556642011
• gnomAD v2: 4-89420941-C-T
• gnomAD v3: 4-88499790-C-T
• gnomAD v4: 4-88499790-C-T
• MyVariant Identifiers: chr4:g.89420941C>T (hg19) ; chr4:g.88499790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88499790C>T , CM000666.2:g.88499790C>T	GRCh38
NC_000004.11:g.89420941C>T , CM000666.1:g.89420941C>T	GRCh37
NC_000004.10:g.89639964C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264350.8:c.2445-136C>T MANE Select	ENSP00000264350.3:n.2445-136C>T
ENST00000264350.7:c.2445-136C>T	ENSP00000264350.3:n.2445-136C>T
ENST00000502913.1:n.1166-136C>T
ENST00000508159.1:c.1359-136C>T	ENSP00000424129.1:n.1359-136C>T
ENST00000510223.5:n.1933-136C>T
NM_016323.3:c.2445-136C>T	NP_057407.2:n.2445-136C>T
XM_011532022.1:c.2220-136C>T	XP_011530324.1:n.2220-136C>T
XM_011532023.1:c.2157-136C>T	XP_011530325.1:n.2157-136C>T
XM_011532022.2:c.2673-136C>T	XP_011530324.2:n.2673-136C>T
NM_016323.4:c.2445-136C>T MANE Select	NP_057407.2:n.2445-136C>T