Canonical Allele Identifier: CA563652038
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1171703917
gnomAD v2: 5-153857017-A-G
gnomAD v4: 5-154477457-A-G
MyVariant Identifiers: chr5:g.153857017A>G (hg19) chr5:g.154477457A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477457A>G , CM000667.2:g.154477457A>G GRCh38
NC_000005.9:g.153857017A>G , CM000667.1:g.153857017A>G GRCh37
NC_000005.8:g.153837210A>G NCBI36
NG_052889.1:g.5808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.543+9T>C MANE Select ENSP00000231121.2:n.543+9T>C
ENST00000231121.2:c.543+9T>C ENSP00000231121.2:n.543+9T>C
NM_004821.2:c.543+9T>C NP_004812.1:n.543+9T>C
XM_005268531.1:c.543+9T>C XP_005268588.1:n.543+9T>C
NM_004821.3:c.543+9T>C MANE Select NP_004812.1:n.543+9T>C
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