Canonical Allele Identifier: CA2671391588
Gene: HERC5 HGNC NCBI

Linked Data

gnomAD v4: 4-88499783-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88499783A>T , CM000666.2:g.88499783A>T GRCh38
NC_000004.11:g.89420934A>T , CM000666.1:g.89420934A>T GRCh37
NC_000004.10:g.89639957A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264350.8:c.2445-143A>T MANE Select ENSP00000264350.3:n.2445-143A>T
ENST00000264350.7:c.2445-143A>T ENSP00000264350.3:n.2445-143A>T
ENST00000502913.1:n.1166-143A>T
ENST00000508159.1:c.1359-143A>T ENSP00000424129.1:n.1359-143A>T
ENST00000510223.5:n.1933-143A>T
NM_016323.3:c.2445-143A>T NP_057407.2:n.2445-143A>T
XM_011532022.1:c.2220-143A>T XP_011530324.1:n.2220-143A>T
XM_011532023.1:c.2157-143A>T XP_011530325.1:n.2157-143A>T
XM_011532022.2:c.2673-143A>T XP_011530324.2:n.2673-143A>T
NM_016323.4:c.2445-143A>T MANE Select NP_057407.2:n.2445-143A>T