Canonical Allele Identifier: CA361921484
Gene: HAND1 HGNC NCBI

Linked Data

COSMIC: COSM5628691
MyVariant Identifiers: chr5:g.153857043T>C (hg19) chr5:g.154477483T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477483T>C , CM000667.2:g.154477483T>C GRCh38
NC_000005.9:g.153857043T>C , CM000667.1:g.153857043T>C GRCh37
NC_000005.8:g.153837236T>C NCBI36
NG_052889.1:g.5782A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.526A>G MANE Select ENSP00000231121.2:p.Lys176Glu
ENST00000231121.2:c.526A>G ENSP00000231121.2:p.Lys176Glu
NM_004821.2:c.526A>G NP_004812.1:p.Lys176Glu
XM_005268531.1:c.526A>G XP_005268588.1:p.Lys176Glu
NM_004821.3:c.526A>G MANE Select NP_004812.1:p.Lys176Glu
Search 100 bp 5'
Search 100 bp 3'