Canonical Allele Identifier: CA361921517

Gene: HAND1

Linked Data

• MyVariant Identifiers: chr5:g.153857046T>G (hg19) ; chr5:g.154477486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477486T>G , CM000667.2:g.154477486T>G	GRCh38
NC_000005.9:g.153857046T>G , CM000667.1:g.153857046T>G	GRCh37
NC_000005.8:g.153837239T>G	NCBI36
NG_052889.1:g.5779A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231121.3:c.523A>C MANE Select	ENSP00000231121.2:p.Ser175Arg
ENST00000231121.2:c.523A>C	ENSP00000231121.2:p.Ser175Arg
NM_004821.2:c.523A>C	NP_004812.1:p.Ser175Arg
XM_005268531.1:c.523A>C	XP_005268588.1:p.Ser175Arg
NM_004821.3:c.523A>C MANE Select	NP_004812.1:p.Ser175Arg