Canonical Allele Identifier: CA125915015
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1032638523
gnomAD v4: 5-119452477-A-C
MyVariant Identifiers: chr5:g.118788172A>C (hg19) chr5:g.119452477A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452477A>C , CM000667.2:g.119452477A>C GRCh38
NC_000005.9:g.118788172A>C , CM000667.1:g.118788172A>C GRCh37
NC_000005.8:g.118816071A>C NCBI36
NG_008182.1:g.5025A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.-99A>C ENSP00000426272.2:n.-99A>C
ENST00000682996.1:c.-99A>C ENSP00000507792.1:n.-99A>C
ENST00000683936.1:c.-99A>C ENSP00000507721.1:n.-99A>C
ENST00000684214.1:c.-99A>C ENSP00000508071.1:n.-99A>C
ENST00000256216.10:c.-99A>C ENSP00000256216.6:n.-99A>C
ENST00000511186.5:n.5A>C
NM_000414.3:c.-99A>C NP_000405.1:n.-99A>C
NM_001199292.1:c.-99A>C NP_001186221.1:n.-99A>C
NM_001292027.1:c.-236A>C NP_001278956.1:n.-236A>C
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