Canonical Allele Identifier: CA374121913

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235539-G-A
• MyVariant Identifiers: chr9:g.98997821G>A (hg19) ; chr9:g.96235539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235539G>A , CM000671.2:g.96235539G>A	GRCh38
NC_000009.11:g.98997821G>A , CM000671.1:g.98997821G>A	GRCh37
NC_000009.10:g.98037642G>A	NCBI36
NG_008157.1:g.71614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.704C>T	ENSP00000364411.2:p.Ala235Val
ENST00000375263.8:c.854C>T MANE Select	ENSP00000364412.3:p.Ala285Val
ENST00000463517.2:n.2396C>T
ENST00000464104.6:n.1792C>T
ENST00000467499.6:c.*553C>T	ENSP00000498077.1:n.*553C>T
ENST00000494814.6:n.404C>T
ENST00000643789.1:c.3146C>T
ENST00000648146.1:c.992C>T	ENSP00000497238.1:n.992C>T
ENST00000648332.1:c.531C>T	ENSP00000497562.1:n.531C>T
ENST00000650005.1:c.783C>T	ENSP00000498121.1:n.783C>T
ENST00000375262.3:c.704C>T	ENSP00000364411.2:p.Ala235Val
ENST00000375263.7:c.854C>T	ENSP00000364412.3:p.Ala285Val
ENST00000464104.5:n.707C>T
ENST00000467499.5:n.114C>T
ENST00000494814.5:n.413C>T
NM_000197.1:c.854C>T	NP_000188.1:p.Ala285Val
XM_005251970.3:c.494C>T	XP_005252027.1:p.Ala165Val
XM_011518618.1:c.854C>T	XP_011516920.1:p.Ala285Val
XM_011518619.1:c.854C>T	XP_011516921.1:p.Ala285Val
XM_011518620.1:c.746C>T	XP_011516922.1:p.Ala249Val
NM_000197.2:c.854C>T MANE Select	NP_000188.1:p.Ala285Val
XM_011518618.2:c.854C>T	XP_011516920.1:p.Ala285Val
XM_011518619.2:c.854C>T	XP_011516921.1:p.Ala285Val
XM_017014671.1:c.854C>T	XP_016870160.1:p.Ala285Val
XM_017014672.1:c.854C>T	XP_016870161.1:p.Ala285Val
XM_017014673.2:c.818C>T	XP_016870162.1:p.Ala273Val
XM_017014674.1:c.746C>T	XP_016870163.1:p.Ala249Val
XM_017014675.1:c.692C>T	XP_016870164.1:p.Ala231Val
XM_017014677.1:c.494C>T	XP_016870166.1:p.Ala165Val
XM_024447529.1:c.692C>T	XP_024303297.1:p.Ala231Val
XR_002956778.1:n.3326C>T