Canonical Allele Identifier: CA361921478
Gene: HAND1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477482T>C , CM000667.2:g.154477482T>C GRCh38
NC_000005.9:g.153857042T>C , CM000667.1:g.153857042T>C GRCh37
NC_000005.8:g.153837235T>C NCBI36
NG_052889.1:g.5783A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.527A>G MANE Select ENSP00000231121.2:p.Lys176Arg
ENST00000231121.2:c.527A>G ENSP00000231121.2:p.Lys176Arg
NM_004821.2:c.527A>G NP_004812.1:p.Lys176Arg
XM_005268531.1:c.527A>G XP_005268588.1:p.Lys176Arg
NM_004821.3:c.527A>G MANE Select NP_004812.1:p.Lys176Arg