Canonical Allele Identifier: CA3526547
Gene: HAND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1570143
ClinVar RCV Id: RCV002215158
dbSNP Id: rs146912397
ExAC: 5:153857051 C / A
gnomAD v2: 5-153857051-C-A
gnomAD v3: 5-154477491-C-A
gnomAD v4: 5-154477491-C-A
MyVariant Identifiers: chr5:g.153857051C>A (hg19) chr5:g.154477491C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477491C>A , CM000667.2:g.154477491C>A GRCh38
NC_000005.9:g.153857051C>A , CM000667.1:g.153857051C>A GRCh37
NC_000005.8:g.153837244C>A NCBI36
NG_052889.1:g.5774G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.518G>T MANE Select ENSP00000231121.2:p.Arg173Leu
ENST00000231121.2:c.518G>T ENSP00000231121.2:p.Arg173Leu
NM_004821.2:c.518G>T NP_004812.1:p.Arg173Leu
XM_005268531.1:c.518G>T XP_005268588.1:p.Arg173Leu
NM_004821.3:c.518G>T MANE Select NP_004812.1:p.Arg173Leu
Search 100 bp 5'
Search 100 bp 3'