Canonical Allele Identifier: CA447235223
Gene: HAND1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.153857026C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477466C>T , CM000667.2:g.154477466C>T GRCh38
NC_000005.9:g.153857026C>T , CM000667.1:g.153857026C>T GRCh37
NC_000005.8:g.153837219C>T NCBI36
NG_052889.1:g.5799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.543G>A MANE Select ENSP00000231121.2:p.Leu181=
ENST00000231121.2:c.543G>A ENSP00000231121.2:p.Leu181=
NM_004821.2:c.543G>A NP_004812.1:p.Leu181=
XM_005268531.1:c.543G>A XP_005268588.1:p.Leu181=
NM_004821.3:c.543G>A MANE Select NP_004812.1:p.Leu181=