Canonical Allele Identifier: CA563652036
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1427974326
gnomAD v2: 5-153857010-A-C
gnomAD v4: 5-154477450-A-C
MyVariant Identifiers: chr5:g.153857010A>C (hg19) chr5:g.154477450A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477450A>C , CM000667.2:g.154477450A>C GRCh38
NC_000005.9:g.153857010A>C , CM000667.1:g.153857010A>C GRCh37
NC_000005.8:g.153837203A>C NCBI36
NG_052889.1:g.5815T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+16T>G MANE Select ENSP00000231121.2:n.543+16T>G
ENST00000231121.2:c.543+16T>G ENSP00000231121.2:n.543+16T>G
NM_004821.2:c.543+16T>G NP_004812.1:n.543+16T>G
XM_005268531.1:c.543+16T>G XP_005268588.1:n.543+16T>G
NM_004821.3:c.543+16T>G MANE Select NP_004812.1:n.543+16T>G
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