Canonical Allele Identifier: CA361921534
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1313460396
gnomAD v2: 5-153857052-G-T
gnomAD v4: 5-154477492-G-T
MyVariant Identifiers: chr5:g.153857052G>T (hg19) chr5:g.154477492G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477492G>T , CM000667.2:g.154477492G>T GRCh38
NC_000005.9:g.153857052G>T , CM000667.1:g.153857052G>T GRCh37
NC_000005.8:g.153837245G>T NCBI36
NG_052889.1:g.5773C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.517C>A MANE Select ENSP00000231121.2:p.Arg173Ser
ENST00000231121.2:c.517C>A ENSP00000231121.2:p.Arg173Ser
NM_004821.2:c.517C>A NP_004812.1:p.Arg173Ser
XM_005268531.1:c.517C>A XP_005268588.1:p.Arg173Ser
NM_004821.3:c.517C>A MANE Select NP_004812.1:p.Arg173Ser
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