Canonical Allele Identifier: CA2676143334
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477447-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477447T>C , CM000667.2:g.154477447T>C GRCh38
NC_000005.9:g.153857007T>C , CM000667.1:g.153857007T>C GRCh37
NC_000005.8:g.153837200T>C NCBI36
NG_052889.1:g.5818A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+19A>G MANE Select ENSP00000231121.2:n.543+19A>G
ENST00000231121.2:c.543+19A>G ENSP00000231121.2:n.543+19A>G
NM_004821.2:c.543+19A>G NP_004812.1:n.543+19A>G
XM_005268531.1:c.543+19A>G XP_005268588.1:n.543+19A>G
NM_004821.3:c.543+19A>G MANE Select NP_004812.1:n.543+19A>G
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