Canonical Allele Identifier: CA2676143320
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477444-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477444G>T , CM000667.2:g.154477444G>T GRCh38
NC_000005.9:g.153857004G>T , CM000667.1:g.153857004G>T GRCh37
NC_000005.8:g.153837197G>T NCBI36
NG_052889.1:g.5821C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+22C>A MANE Select ENSP00000231121.2:n.543+22C>A
ENST00000231121.2:c.543+22C>A ENSP00000231121.2:n.543+22C>A
NM_004821.2:c.543+22C>A NP_004812.1:n.543+22C>A
XM_005268531.1:c.543+22C>A XP_005268588.1:n.543+22C>A
NM_004821.3:c.543+22C>A MANE Select NP_004812.1:n.543+22C>A
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