Canonical Allele Identifier: CA361921490

Gene: HAND1

Linked Data

• MyVariant Identifiers: chr5:g.153857044G>T (hg19) ; chr5:g.154477484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477484G>T , CM000667.2:g.154477484G>T	GRCh38
NC_000005.9:g.153857044G>T , CM000667.1:g.153857044G>T	GRCh37
NC_000005.8:g.153837237G>T	NCBI36
NG_052889.1:g.5781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231121.3:c.525C>A MANE Select	ENSP00000231121.2:p.Ser175Arg
ENST00000231121.2:c.525C>A	ENSP00000231121.2:p.Ser175Arg
NM_004821.2:c.525C>A	NP_004812.1:p.Ser175Arg
XM_005268531.1:c.525C>A	XP_005268588.1:p.Ser175Arg
NM_004821.3:c.525C>A MANE Select	NP_004812.1:p.Ser175Arg