Canonical Allele Identifier: CA361921953
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v4: 5-154477553-C-G
MyVariant Identifiers: chr5:g.153857113C>G (hg19) chr5:g.154477553C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477553C>G , CM000667.2:g.154477553C>G GRCh38
NC_000005.9:g.153857113C>G , CM000667.1:g.153857113C>G GRCh37
NC_000005.8:g.153837306C>G NCBI36
NG_052889.1:g.5712G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.456G>C MANE Select ENSP00000231121.2:p.Lys152Asn
ENST00000231121.2:c.456G>C ENSP00000231121.2:p.Lys152Asn
NM_004821.2:c.456G>C NP_004812.1:p.Lys152Asn
XM_005268531.1:c.456G>C XP_005268588.1:p.Lys152Asn
NM_004821.3:c.456G>C MANE Select NP_004812.1:p.Lys152Asn
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