Canonical Allele Identifier: CA1577006782
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs35255511
gnomAD v4: 5-119452455-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452455A>C , CM000667.2:g.119452455A>C GRCh38
NC_000005.9:g.118788150A>C , CM000667.1:g.118788150A>C GRCh37
NC_000005.8:g.118816049A>C NCBI36
NG_008182.1:g.5003A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-121A>C ENSP00000256216.6:n.-121A>C
NM_000414.3:c.-121A>C NP_000405.1:n.-121A>C
NM_001199292.1:c.-121A>C NP_001186221.1:n.-121A>C
NM_001292027.1:c.-258A>C NP_001278956.1:n.-258A>C
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