Canonical Allele Identifier: CA802755311

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1025981491
• gnomAD v4: 5-119452524-C-T
• MyVariant Identifiers: chr5:g.118788219C>T (hg19) ; chr5:g.119452524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452524C>T , CM000667.2:g.119452524C>T	GRCh38
NC_000005.9:g.118788219C>T , CM000667.1:g.118788219C>T	GRCh37
NC_000005.8:g.118816118C>T	NCBI36
NG_008182.1:g.5072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-52C>T	ENSP00000426272.2:n.-52C>T
ENST00000518349.6:c.-52C>T	ENSP00000507185.1:n.-52C>T
ENST00000682445.1:c.-52C>T	ENSP00000508061.1:n.-52C>T
ENST00000682996.1:c.-52C>T	ENSP00000507792.1:n.-52C>T
ENST00000683371.1:c.-52C>T	ENSP00000508376.1:n.-52C>T
ENST00000683936.1:c.-52C>T	ENSP00000507721.1:n.-52C>T
ENST00000683974.1:n.31C>T
ENST00000684214.1:c.-52C>T	ENSP00000508071.1:n.-52C>T
ENST00000414835.7:c.-230C>T	ENSP00000411960.3:n.-230C>T
ENST00000510025.7:c.-52C>T MANE Select	ENSP00000424940.3:n.-52C>T
ENST00000646058.1:c.-52C>T	ENSP00000493579.1:n.-52C>T
ENST00000646590.1:c.-52C>T	ENSP00000494892.1:n.-52C>T
ENST00000256216.10:c.-52C>T	ENSP00000256216.6:n.-52C>T
ENST00000442060.7:c.-52C>T	ENSP00000390208.3:n.-52C>T
ENST00000511186.5:n.52C>T
ENST00000515235.6:n.9C>T
ENST00000515320.5:c.-52C>T	ENSP00000424613.1:n.-52C>T
NM_000414.3:c.-52C>T	NP_000405.1:n.-52C>T
NM_001199291.2:c.-230C>T	NP_001186220.1:n.-230C>T
NM_001199292.1:c.-52C>T	NP_001186221.1:n.-52C>T
NM_001292027.1:c.-189C>T	NP_001278956.1:n.-189C>T
NM_001292028.1:c.-651C>T	NP_001278957.1:n.-651C>T
NM_000414.4:c.-52C>T MANE Select	NP_000405.1:n.-52C>T
NM_001199291.3:c.-230C>T	NP_001186220.1:n.-230C>T
NM_001199292.2:c.-52C>T	NP_001186221.1:n.-52C>T
NM_001292027.2:c.-189C>T	NP_001278956.1:n.-189C>T
NM_001292028.2:c.-651C>T	NP_001278957.1:n.-651C>T
NM_001374497.1:c.-52C>T	NP_001361426.1:n.-52C>T
NM_001374498.1:c.-52C>T	NP_001361427.1:n.-52C>T
NM_001374499.1:c.-585C>T	NP_001361428.1:n.-585C>T
NM_001374500.1:c.-778C>T	NP_001361429.1:n.-778C>T
NM_001374501.1:c.-651C>T	NP_001361430.1:n.-651C>T
NM_001374502.1:c.-656C>T	NP_001361431.1:n.-656C>T
NM_001374503.1:c.-721C>T	NP_001361432.1:n.-721C>T
NR_164653.1:n.28C>T
NR_164654.1:n.28C>T