Canonical Allele Identifier: CA802755249
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs1218870314
gnomAD v4: 5-119452465-G-A
MyVariant Identifiers: chr5:g.118788160G>A (hg19) chr5:g.119452465G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119452465G>A , CM000667.2:g.119452465G>A GRCh38
NC_000005.9:g.118788160G>A , CM000667.1:g.118788160G>A GRCh37
NC_000005.8:g.118816059G>A NCBI36
NG_008182.1:g.5013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683936.1:c.-111G>A ENSP00000507721.1:n.-111G>A
ENST00000256216.10:c.-111G>A ENSP00000256216.6:n.-111G>A
NM_000414.3:c.-111G>A NP_000405.1:n.-111G>A
NM_001199292.1:c.-111G>A NP_001186221.1:n.-111G>A
NM_001292027.1:c.-248G>A NP_001278956.1:n.-248G>A
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