Canonical Allele Identifier: CA360861748

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1304273072
• gnomAD v3: 5-119452630-G-T
• gnomAD v4: 5-119452630-G-T
• MyVariant Identifiers: chr5:g.118788325G>T (hg19) ; chr5:g.119452630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452630G>T , CM000667.2:g.119452630G>T	GRCh38
NC_000005.9:g.118788325G>T , CM000667.1:g.118788325G>T	GRCh37
NC_000005.8:g.118816224G>T	NCBI36
NG_008182.1:g.5178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.55G>T	ENSP00000426272.2:p.Ala19Ser
ENST00000512841.6:n.96G>T
ENST00000518349.6:c.55G>T	ENSP00000507185.1:p.Ala19Ser
ENST00000682445.1:c.55G>T	ENSP00000508061.1:p.Ala19Ser
ENST00000682996.1:c.55G>T	ENSP00000507792.1:p.Ala19Ser
ENST00000683371.1:c.55G>T	ENSP00000508376.1:p.Ala19Ser
ENST00000683390.1:n.103G>T
ENST00000683936.1:c.55G>T	ENSP00000507721.1:p.Ala19Ser
ENST00000683974.1:n.137G>T
ENST00000684214.1:c.55G>T	ENSP00000508071.1:p.Ala19Ser
ENST00000414835.7:c.-124G>T	ENSP00000411960.3:n.-124G>T
ENST00000510025.7:c.55G>T MANE Select	ENSP00000424940.3:p.Ala19Ser
ENST00000644146.1:c.55G>T	ENSP00000494808.1:p.Ala19Ser
ENST00000645832.1:c.55G>T	ENSP00000494316.1:p.Ala19Ser
ENST00000646058.1:c.55G>T	ENSP00000493579.1:p.Ala19Ser
ENST00000646590.1:c.55G>T	ENSP00000494892.1:p.Ala19Ser
ENST00000256216.10:c.55G>T	ENSP00000256216.6:p.Ala19Ser
ENST00000442060.7:c.55G>T	ENSP00000390208.3:p.Ala19Ser
ENST00000504811.5:c.-124G>T	ENSP00000420914.1:n.-124G>T
ENST00000510025.5:c.-83G>T	ENSP00000424940.1:n.-83G>T
ENST00000511186.5:n.158G>T
ENST00000515235.6:n.115G>T
ENST00000515320.5:c.55G>T	ENSP00000424613.1:p.Ala19Ser
ENST00000519184.5:n.66G>T
NM_000414.3:c.55G>T	NP_000405.1:p.Ala19Ser
NM_001199291.2:c.-124G>T	NP_001186220.1:n.-124G>T
NM_001199292.1:c.55G>T	NP_001186221.1:p.Ala19Ser
NM_001292027.1:c.-83G>T	NP_001278956.1:n.-83G>T
NM_001292028.1:c.-545G>T	NP_001278957.1:n.-545G>T
NM_000414.4:c.55G>T MANE Select	NP_000405.1:p.Ala19Ser
NM_001199291.3:c.-124G>T	NP_001186220.1:n.-124G>T
NM_001199292.2:c.55G>T	NP_001186221.1:p.Ala19Ser
NM_001292027.2:c.-83G>T	NP_001278956.1:n.-83G>T
NM_001292028.2:c.-545G>T	NP_001278957.1:n.-545G>T
NM_001374497.1:c.55G>T	NP_001361426.1:p.Ala19Ser
NM_001374498.1:c.55G>T	NP_001361427.1:p.Ala19Ser
NM_001374499.1:c.-479G>T	NP_001361428.1:n.-479G>T
NM_001374500.1:c.-672G>T	NP_001361429.1:n.-672G>T
NM_001374501.1:c.-545G>T	NP_001361430.1:n.-545G>T
NM_001374502.1:c.-550G>T	NP_001361431.1:n.-550G>T
NM_001374503.1:c.-615G>T	NP_001361432.1:n.-615G>T
NR_164653.1:n.134G>T
NR_164654.1:n.134G>T