Canonical Allele Identifier: CA2676143201
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477400-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477400T>G , CM000667.2:g.154477400T>G GRCh38
NC_000005.9:g.153856960T>G , CM000667.1:g.153856960T>G GRCh37
NC_000005.8:g.153837153T>G NCBI36
NG_052889.1:g.5865A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+66A>C MANE Select ENSP00000231121.2:n.543+66A>C
ENST00000231121.2:c.543+66A>C ENSP00000231121.2:n.543+66A>C
NM_004821.2:c.543+66A>C NP_004812.1:n.543+66A>C
XM_005268531.1:c.543+66A>C XP_005268588.1:n.543+66A>C
NM_004821.3:c.543+66A>C MANE Select NP_004812.1:n.543+66A>C
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