Canonical Allele Identifier: CA2676143342

Gene: HAND1

Linked Data

• gnomAD v4: 5-154477449-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477449C>A , CM000667.2:g.154477449C>A	GRCh38
NC_000005.9:g.153857009C>A , CM000667.1:g.153857009C>A	GRCh37
NC_000005.8:g.153837202C>A	NCBI36
NG_052889.1:g.5816G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000231121.3:c.543+17G>T MANE Select	ENSP00000231121.2:n.543+17G>T
ENST00000231121.2:c.543+17G>T	ENSP00000231121.2:n.543+17G>T
NM_004821.2:c.543+17G>T	NP_004812.1:n.543+17G>T
XM_005268531.1:c.543+17G>T	XP_005268588.1:n.543+17G>T
NM_004821.3:c.543+17G>T MANE Select	NP_004812.1:n.543+17G>T