Canonical Allele Identifier: CA3381573

Gene: HSD17B4

Linked Data

• dbSNP Id: rs375875650
• ExAC: 5:118788245 T / A
• gnomAD v2: 5-118788245-T-A
• gnomAD v3: 5-119452550-T-A
• gnomAD v4: 5-119452550-T-A
• MyVariant Identifiers: chr5:g.118788245T>A (hg19) ; chr5:g.119452550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452550T>A , CM000667.2:g.119452550T>A	GRCh38
NC_000005.9:g.118788245T>A , CM000667.1:g.118788245T>A	GRCh37
NC_000005.8:g.118816144T>A	NCBI36
NG_008182.1:g.5098T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.-26T>A	ENSP00000426272.2:n.-26T>A
ENST00000512841.6:n.16T>A
ENST00000518349.6:c.-26T>A	ENSP00000507185.1:n.-26T>A
ENST00000682445.1:c.-26T>A	ENSP00000508061.1:n.-26T>A
ENST00000682996.1:c.-26T>A	ENSP00000507792.1:n.-26T>A
ENST00000683371.1:c.-26T>A	ENSP00000508376.1:n.-26T>A
ENST00000683390.1:n.23T>A
ENST00000683936.1:c.-26T>A	ENSP00000507721.1:n.-26T>A
ENST00000683974.1:n.57T>A
ENST00000684214.1:c.-26T>A	ENSP00000508071.1:n.-26T>A
ENST00000414835.7:c.-204T>A	ENSP00000411960.3:n.-204T>A
ENST00000510025.7:c.-26T>A MANE Select	ENSP00000424940.3:n.-26T>A
ENST00000644146.1:c.-26T>A	ENSP00000494808.1:n.-26T>A
ENST00000645832.1:c.-26T>A	ENSP00000494316.1:n.-26T>A
ENST00000646058.1:c.-26T>A	ENSP00000493579.1:n.-26T>A
ENST00000646590.1:c.-26T>A	ENSP00000494892.1:n.-26T>A
ENST00000256216.10:c.-26T>A	ENSP00000256216.6:n.-26T>A
ENST00000442060.7:c.-26T>A	ENSP00000390208.3:n.-26T>A
ENST00000510025.5:c.-163T>A	ENSP00000424940.1:n.-163T>A
ENST00000511186.5:n.78T>A
ENST00000515235.6:n.35T>A
ENST00000515320.5:c.-26T>A	ENSP00000424613.1:n.-26T>A
NM_000414.3:c.-26T>A	NP_000405.1:n.-26T>A
NM_001199291.2:c.-204T>A	NP_001186220.1:n.-204T>A
NM_001199292.1:c.-26T>A	NP_001186221.1:n.-26T>A
NM_001292027.1:c.-163T>A	NP_001278956.1:n.-163T>A
NM_001292028.1:c.-625T>A	NP_001278957.1:n.-625T>A
NM_000414.4:c.-26T>A MANE Select	NP_000405.1:n.-26T>A
NM_001199291.3:c.-204T>A	NP_001186220.1:n.-204T>A
NM_001199292.2:c.-26T>A	NP_001186221.1:n.-26T>A
NM_001292027.2:c.-163T>A	NP_001278956.1:n.-163T>A
NM_001292028.2:c.-625T>A	NP_001278957.1:n.-625T>A
NM_001374497.1:c.-26T>A	NP_001361426.1:n.-26T>A
NM_001374498.1:c.-26T>A	NP_001361427.1:n.-26T>A
NM_001374499.1:c.-559T>A	NP_001361428.1:n.-559T>A
NM_001374500.1:c.-752T>A	NP_001361429.1:n.-752T>A
NM_001374501.1:c.-625T>A	NP_001361430.1:n.-625T>A
NM_001374502.1:c.-630T>A	NP_001361431.1:n.-630T>A
NM_001374503.1:c.-695T>A	NP_001361432.1:n.-695T>A
NR_164653.1:n.54T>A
NR_164654.1:n.54T>A