Canonical Allele Identifier: CA2578462587
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477385-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477385C>T , CM000667.2:g.154477385C>T GRCh38
NC_000005.9:g.153856945C>T , CM000667.1:g.153856945C>T GRCh37
NC_000005.8:g.153837138C>T NCBI36
NG_052889.1:g.5880G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+81G>A MANE Select ENSP00000231121.2:n.543+81G>A
ENST00000231121.2:c.543+81G>A ENSP00000231121.2:n.543+81G>A
NM_004821.2:c.543+81G>A NP_004812.1:n.543+81G>A
XM_005268531.1:c.543+81G>A XP_005268588.1:n.543+81G>A
NM_004821.3:c.543+81G>A MANE Select NP_004812.1:n.543+81G>A
Search 100 bp 5'
Search 100 bp 3'