Canonical Allele Identifier: CA361921525
Gene: HAND1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.153857049C>T (hg19) chr5:g.154477489C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477489C>T , CM000667.2:g.154477489C>T GRCh38
NC_000005.9:g.153857049C>T , CM000667.1:g.153857049C>T GRCh37
NC_000005.8:g.153837242C>T NCBI36
NG_052889.1:g.5776G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.520G>A MANE Select ENSP00000231121.2:p.Glu174Lys
ENST00000231121.2:c.520G>A ENSP00000231121.2:p.Glu174Lys
NM_004821.2:c.520G>A NP_004812.1:p.Glu174Lys
XM_005268531.1:c.520G>A XP_005268588.1:p.Glu174Lys
NM_004821.3:c.520G>A MANE Select NP_004812.1:p.Glu174Lys
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