Canonical Allele Identifier: CA563652037
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1467478118
gnomAD v2: 5-153857015-C-G
gnomAD v4: 5-154477455-C-G
MyVariant Identifiers: chr5:g.153857015C>G (hg19) chr5:g.154477455C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477455C>G , CM000667.2:g.154477455C>G GRCh38
NC_000005.9:g.153857015C>G , CM000667.1:g.153857015C>G GRCh37
NC_000005.8:g.153837208C>G NCBI36
NG_052889.1:g.5810G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+11G>C MANE Select ENSP00000231121.2:n.543+11G>C
ENST00000231121.2:c.543+11G>C ENSP00000231121.2:n.543+11G>C
NM_004821.2:c.543+11G>C NP_004812.1:n.543+11G>C
XM_005268531.1:c.543+11G>C XP_005268588.1:n.543+11G>C
NM_004821.3:c.543+11G>C MANE Select NP_004812.1:n.543+11G>C
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