Canonical Allele Identifier: CA374121868

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235532-G-T
• MyVariant Identifiers: chr9:g.98997814G>T (hg19) ; chr9:g.96235532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235532G>T , CM000671.2:g.96235532G>T	GRCh38
NC_000009.11:g.98997814G>T , CM000671.1:g.98997814G>T	GRCh37
NC_000009.10:g.98037635G>T	NCBI36
NG_008157.1:g.71621C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.711C>A	ENSP00000364411.2:p.Tyr237Ter
ENST00000375263.8:c.861C>A MANE Select	ENSP00000364412.3:p.Tyr287Ter
ENST00000463517.2:n.2403C>A
ENST00000464104.6:n.1799C>A
ENST00000467499.6:c.*560C>A	ENSP00000498077.1:n.*560C>A
ENST00000494814.6:n.411C>A
ENST00000643789.1:c.3153C>A
ENST00000648146.1:c.999C>A	ENSP00000497238.1:n.999C>A
ENST00000648332.1:c.538C>A	ENSP00000497562.1:n.538C>A
ENST00000650005.1:c.790C>A	ENSP00000498121.1:n.790C>A
ENST00000375262.3:c.711C>A	ENSP00000364411.2:p.Tyr237Ter
ENST00000375263.7:c.861C>A	ENSP00000364412.3:p.Tyr287Ter
ENST00000464104.5:n.714C>A
ENST00000467499.5:n.121C>A
ENST00000494814.5:n.420C>A
NM_000197.1:c.861C>A	NP_000188.1:p.Tyr287Ter
XM_005251970.3:c.501C>A	XP_005252027.1:p.Tyr167Ter
XM_011518618.1:c.861C>A	XP_011516920.1:p.Tyr287Ter
XM_011518619.1:c.861C>A	XP_011516921.1:p.Tyr287Ter
XM_011518620.1:c.753C>A	XP_011516922.1:p.Tyr251Ter
NM_000197.2:c.861C>A MANE Select	NP_000188.1:p.Tyr287Ter
XM_011518618.2:c.861C>A	XP_011516920.1:p.Tyr287Ter
XM_011518619.2:c.861C>A	XP_011516921.1:p.Tyr287Ter
XM_017014671.1:c.861C>A	XP_016870160.1:p.Tyr287Ter
XM_017014672.1:c.861C>A	XP_016870161.1:p.Tyr287Ter
XM_017014673.2:c.825C>A	XP_016870162.1:p.Tyr275Ter
XM_017014674.1:c.753C>A	XP_016870163.1:p.Tyr251Ter
XM_017014675.1:c.699C>A	XP_016870164.1:p.Tyr233Ter
XM_017014677.1:c.501C>A	XP_016870166.1:p.Tyr167Ter
XM_024447529.1:c.699C>A	XP_024303297.1:p.Tyr233Ter
XR_002956778.1:n.3333C>A