Canonical Allele Identifier: CA3526546
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs781370812
ExAC: 5:153857048 T / C
gnomAD v2: 5-153857048-T-C
gnomAD v4: 5-154477488-T-C
MyVariant Identifiers: chr5:g.153857048T>C (hg19) chr5:g.154477488T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477488T>C , CM000667.2:g.154477488T>C GRCh38
NC_000005.9:g.153857048T>C , CM000667.1:g.153857048T>C GRCh37
NC_000005.8:g.153837241T>C NCBI36
NG_052889.1:g.5777A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.521A>G MANE Select ENSP00000231121.2:p.Glu174Gly
ENST00000231121.2:c.521A>G ENSP00000231121.2:p.Glu174Gly
NM_004821.2:c.521A>G NP_004812.1:p.Glu174Gly
XM_005268531.1:c.521A>G XP_005268588.1:p.Glu174Gly
NM_004821.3:c.521A>G MANE Select NP_004812.1:p.Glu174Gly
Search 100 bp 5'
Search 100 bp 3'