Canonical Allele Identifier: CA3526542
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs547371023
ExAC: 5:153857012 G / A
gnomAD v2: 5-153857012-G-A
gnomAD v3: 5-154477452-G-A
gnomAD v4: 5-154477452-G-A
MyVariant Identifiers: chr5:g.153857012G>A (hg19) chr5:g.154477452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477452G>A , CM000667.2:g.154477452G>A GRCh38
NC_000005.9:g.153857012G>A , CM000667.1:g.153857012G>A GRCh37
NC_000005.8:g.153837205G>A NCBI36
NG_052889.1:g.5813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.543+14C>T MANE Select ENSP00000231121.2:n.543+14C>T
ENST00000231121.2:c.543+14C>T ENSP00000231121.2:n.543+14C>T
NM_004821.2:c.543+14C>T NP_004812.1:n.543+14C>T
XM_005268531.1:c.543+14C>T XP_005268588.1:n.543+14C>T
NM_004821.3:c.543+14C>T MANE Select NP_004812.1:n.543+14C>T
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