Canonical Allele Identifier: CA361921518

Gene: HAND1

Linked Data

• MyVariant Identifiers: chr5:g.153857047C>A (hg19) ; chr5:g.154477487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477487C>A , CM000667.2:g.154477487C>A	GRCh38
NC_000005.9:g.153857047C>A , CM000667.1:g.153857047C>A	GRCh37
NC_000005.8:g.153837240C>A	NCBI36
NG_052889.1:g.5778G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000231121.3:c.522G>T MANE Select	ENSP00000231121.2:p.Glu174Asp
ENST00000231121.2:c.522G>T	ENSP00000231121.2:p.Glu174Asp
NM_004821.2:c.522G>T	NP_004812.1:p.Glu174Asp
XM_005268531.1:c.522G>T	XP_005268588.1:p.Glu174Asp
NM_004821.3:c.522G>T MANE Select	NP_004812.1:p.Glu174Asp