Canonical Allele Identifier: CA374121879

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235534-A-G
• MyVariant Identifiers: chr9:g.98997816A>G (hg19) ; chr9:g.96235534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235534A>G , CM000671.2:g.96235534A>G	GRCh38
NC_000009.11:g.98997816A>G , CM000671.1:g.98997816A>G	GRCh37
NC_000009.10:g.98037637A>G	NCBI36
NG_008157.1:g.71619T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.709T>C	ENSP00000364411.2:p.Tyr237His
ENST00000375263.8:c.859T>C MANE Select	ENSP00000364412.3:p.Tyr287His
ENST00000463517.2:n.2401T>C
ENST00000464104.6:n.1797T>C
ENST00000467499.6:c.*558T>C	ENSP00000498077.1:n.*558T>C
ENST00000494814.6:n.409T>C
ENST00000643789.1:c.3151T>C
ENST00000648146.1:c.997T>C	ENSP00000497238.1:n.997T>C
ENST00000648332.1:c.536T>C	ENSP00000497562.1:n.536T>C
ENST00000650005.1:c.788T>C	ENSP00000498121.1:n.788T>C
ENST00000375262.3:c.709T>C	ENSP00000364411.2:p.Tyr237His
ENST00000375263.7:c.859T>C	ENSP00000364412.3:p.Tyr287His
ENST00000464104.5:n.712T>C
ENST00000467499.5:n.119T>C
ENST00000494814.5:n.418T>C
NM_000197.1:c.859T>C	NP_000188.1:p.Tyr287His
XM_005251970.3:c.499T>C	XP_005252027.1:p.Tyr167His
XM_011518618.1:c.859T>C	XP_011516920.1:p.Tyr287His
XM_011518619.1:c.859T>C	XP_011516921.1:p.Tyr287His
XM_011518620.1:c.751T>C	XP_011516922.1:p.Tyr251His
NM_000197.2:c.859T>C MANE Select	NP_000188.1:p.Tyr287His
XM_011518618.2:c.859T>C	XP_011516920.1:p.Tyr287His
XM_011518619.2:c.859T>C	XP_011516921.1:p.Tyr287His
XM_017014671.1:c.859T>C	XP_016870160.1:p.Tyr287His
XM_017014672.1:c.859T>C	XP_016870161.1:p.Tyr287His
XM_017014673.2:c.823T>C	XP_016870162.1:p.Tyr275His
XM_017014674.1:c.751T>C	XP_016870163.1:p.Tyr251His
XM_017014675.1:c.697T>C	XP_016870164.1:p.Tyr233His
XM_017014677.1:c.499T>C	XP_016870166.1:p.Tyr167His
XM_024447529.1:c.697T>C	XP_024303297.1:p.Tyr233His
XR_002956778.1:n.3331T>C