Canonical Allele Identifier: CA361921597

Gene: HAND1

Linked Data

• MyVariant Identifiers: chr5:g.153857061C>G (hg19) ; chr5:g.154477501C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477501C>G , CM000667.2:g.154477501C>G	GRCh38
NC_000005.9:g.153857061C>G , CM000667.1:g.153857061C>G	GRCh37
NC_000005.8:g.153837254C>G	NCBI36
NG_052889.1:g.5764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231121.3:c.508G>C MANE Select	ENSP00000231121.2:p.Asp170His
ENST00000231121.2:c.508G>C	ENSP00000231121.2:p.Asp170His
NM_004821.2:c.508G>C	NP_004812.1:p.Asp170His
XM_005268531.1:c.508G>C	XP_005268588.1:p.Asp170His
NM_004821.3:c.508G>C MANE Select	NP_004812.1:p.Asp170His