Canonical Allele Identifier: CA1474779933
Gene: HERC5 HGNC NCBI

Linked Data

dbSNP Id: rs1578068618
gnomAD v4: 4-88499782-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88499782T>C , CM000666.2:g.88499782T>C GRCh38
NC_000004.11:g.89420933T>C , CM000666.1:g.89420933T>C GRCh37
NC_000004.10:g.89639956T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264350.8:c.2445-144T>C MANE Select ENSP00000264350.3:n.2445-144T>C
ENST00000264350.7:c.2445-144T>C ENSP00000264350.3:n.2445-144T>C
ENST00000502913.1:n.1166-144T>C
ENST00000508159.1:c.1359-144T>C ENSP00000424129.1:n.1359-144T>C
ENST00000510223.5:n.1933-144T>C
NM_016323.3:c.2445-144T>C NP_057407.2:n.2445-144T>C
XM_011532022.1:c.2220-144T>C XP_011530324.1:n.2220-144T>C
XM_011532023.1:c.2157-144T>C XP_011530325.1:n.2157-144T>C
XM_011532022.2:c.2673-144T>C XP_011530324.2:n.2673-144T>C
NM_016323.4:c.2445-144T>C MANE Select NP_057407.2:n.2445-144T>C