Canonical Allele Identifier: CA130059683
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs747099689
MyVariant Identifiers: chr5:g.153857039C>A (hg19) chr5:g.154477479C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477479C>A , CM000667.2:g.154477479C>A GRCh38
NC_000005.9:g.153857039C>A , CM000667.1:g.153857039C>A GRCh37
NC_000005.8:g.153837232C>A NCBI36
NG_052889.1:g.5786G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.530G>T MANE Select ENSP00000231121.2:p.Arg177Leu
ENST00000231121.2:c.530G>T ENSP00000231121.2:p.Arg177Leu
NM_004821.2:c.530G>T NP_004812.1:p.Arg177Leu
XM_005268531.1:c.530G>T XP_005268588.1:p.Arg177Leu
NM_004821.3:c.530G>T MANE Select NP_004812.1:p.Arg177Leu
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