Canonical Allele Identifier: CA3526545
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs768888751
ExAC: 5:153857040 G / T
gnomAD v2: 5-153857040-G-T
gnomAD v4: 5-154477480-G-T
MyVariant Identifiers: chr5:g.153857040G>T (hg19) chr5:g.154477480G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477480G>T , CM000667.2:g.154477480G>T GRCh38
NC_000005.9:g.153857040G>T , CM000667.1:g.153857040G>T GRCh37
NC_000005.8:g.153837233G>T NCBI36
NG_052889.1:g.5785C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.529C>A MANE Select ENSP00000231121.2:p.Arg177=
ENST00000231121.2:c.529C>A ENSP00000231121.2:p.Arg177=
NM_004821.2:c.529C>A NP_004812.1:p.Arg177=
XM_005268531.1:c.529C>A XP_005268588.1:p.Arg177=
NM_004821.3:c.529C>A MANE Select NP_004812.1:p.Arg177=
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