Canonical Allele Identifier: CA361921513
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1164568199
COSMIC: COSM1064724
MyVariant Identifiers: chr5:g.153857045C>T (hg19) chr5:g.154477485C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477485C>T , CM000667.2:g.154477485C>T GRCh38
NC_000005.9:g.153857045C>T , CM000667.1:g.153857045C>T GRCh37
NC_000005.8:g.153837238C>T NCBI36
NG_052889.1:g.5780G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.524G>A MANE Select ENSP00000231121.2:p.Ser175Asn
ENST00000231121.2:c.524G>A ENSP00000231121.2:p.Ser175Asn
NM_004821.2:c.524G>A NP_004812.1:p.Ser175Asn
XM_005268531.1:c.524G>A XP_005268588.1:p.Ser175Asn
NM_004821.3:c.524G>A MANE Select NP_004812.1:p.Ser175Asn
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