Canonical Allele Identifier: CA361921816

Gene: HAND1

Linked Data

• MyVariant Identifiers: chr5:g.153857097C>A (hg19) ; chr5:g.154477537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477537C>A , CM000667.2:g.154477537C>A	GRCh38
NC_000005.9:g.153857097C>A , CM000667.1:g.153857097C>A	GRCh37
NC_000005.8:g.153837290C>A	NCBI36
NG_052889.1:g.5728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231121.3:c.472G>T MANE Select	ENSP00000231121.2:p.Asp158Tyr
ENST00000231121.2:c.472G>T	ENSP00000231121.2:p.Asp158Tyr
NM_004821.2:c.472G>T	NP_004812.1:p.Asp158Tyr
XM_005268531.1:c.472G>T	XP_005268588.1:p.Asp158Tyr
NM_004821.3:c.472G>T MANE Select	NP_004812.1:p.Asp158Tyr