Canonical Allele Identifier: CA125914993
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs906103561
gnomAD v2: 5-118788154-G-A
gnomAD v3: 5-119452459-G-A
gnomAD v4: 5-119452459-G-A
MyVariant Identifiers: chr5:g.118788154G>A (hg19) chr5:g.119452459G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452459G>A , CM000667.2:g.119452459G>A GRCh38
NC_000005.9:g.118788154G>A , CM000667.1:g.118788154G>A GRCh37
NC_000005.8:g.118816053G>A NCBI36
NG_008182.1:g.5007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256216.10:c.-117G>A ENSP00000256216.6:n.-117G>A
NM_000414.3:c.-117G>A NP_000405.1:n.-117G>A
NM_001199292.1:c.-117G>A NP_001186221.1:n.-117G>A
NM_001292027.1:c.-254G>A NP_001278956.1:n.-254G>A
Search 100 bp 5'
Search 100 bp 3'