Canonical Allele Identifier: CA361921516
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477486-T-C
MyVariant Identifiers: chr5:g.153857046T>C (hg19) chr5:g.154477486T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.523A>G MANE Select ENSP00000231121.2:p.Ser175Gly
ENST00000231121.2:c.523A>G ENSP00000231121.2:p.Ser175Gly
NM_004821.2:c.523A>G NP_004812.1:p.Ser175Gly
XM_005268531.1:c.523A>G XP_005268588.1:p.Ser175Gly
NM_004821.3:c.523A>G MANE Select NP_004812.1:p.Ser175Gly
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