Canonical Allele Identifier: CA802755242
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1185160299
gnomAD v3: 5-119452458-A-G
gnomAD v4: 5-119452458-A-G
MyVariant Identifiers: chr5:g.118788153A>G (hg19) chr5:g.119452458A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452458A>G , CM000667.2:g.119452458A>G GRCh38
NC_000005.9:g.118788153A>G , CM000667.1:g.118788153A>G GRCh37
NC_000005.8:g.118816052A>G NCBI36
NG_008182.1:g.5006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-118A>G ENSP00000256216.6:n.-118A>G
NM_000414.3:c.-118A>G NP_000405.1:n.-118A>G
NM_001199292.1:c.-118A>G NP_001186221.1:n.-118A>G
NM_001292027.1:c.-255A>G NP_001278956.1:n.-255A>G
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