Canonical Allele Identifier: CA374123461

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244343-C-A
• COSMIC: COSM199086
• MyVariant Identifiers: chr9:g.99006625C>A (hg19) ; chr9:g.96244343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244343C>A , CM000671.2:g.96244343C>A	GRCh38
NC_000009.11:g.99006625C>A , CM000671.1:g.99006625C>A	GRCh37
NC_000009.10:g.98046446C>A	NCBI36
NG_008157.1:g.62810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.658G>T	ENSP00000364411.2:p.Glu220Ter
ENST00000375263.8:c.658G>T MANE Select	ENSP00000364412.3:p.Glu220Ter
ENST00000463517.2:n.2200G>T
ENST00000464104.6:n.1596G>T
ENST00000467499.6:c.*357G>T	ENSP00000498077.1:n.*357G>T
ENST00000484816.2:n.9G>T
ENST00000494814.6:n.170G>T
ENST00000643789.1:c.2950G>T
ENST00000648146.1:c.658G>T	ENSP00000497238.1:p.Glu220Ter
ENST00000648332.1:c.335G>T	ENSP00000497562.1:n.335G>T
ENST00000648799.1:c.550G>T	ENSP00000498039.1:p.Glu184Ter
ENST00000650005.1:c.587G>T	ENSP00000498121.1:n.587G>T
ENST00000375262.3:c.658G>T	ENSP00000364411.2:p.Glu220Ter
ENST00000375263.7:c.658G>T	ENSP00000364412.3:p.Glu220Ter
ENST00000464104.5:n.511G>T
ENST00000484816.1:n.8G>T
ENST00000494814.5:n.179G>T
NM_000197.1:c.658G>T	NP_000188.1:p.Glu220Ter
XM_005251970.3:c.298G>T	XP_005252027.1:p.Glu100Ter
XM_011518618.1:c.658G>T	XP_011516920.1:p.Glu220Ter
XM_011518619.1:c.658G>T	XP_011516921.1:p.Glu220Ter
XM_011518620.1:c.550G>T	XP_011516922.1:p.Glu184Ter
XM_011518621.1:c.658G>T	XP_011516923.1:p.Glu220Ter
NM_000197.2:c.658G>T MANE Select	NP_000188.1:p.Glu220Ter
XM_011518618.2:c.658G>T	XP_011516920.1:p.Glu220Ter
XM_011518619.2:c.658G>T	XP_011516921.1:p.Glu220Ter
XM_017014671.1:c.658G>T	XP_016870160.1:p.Glu220Ter
XM_017014672.1:c.658G>T	XP_016870161.1:p.Glu220Ter
XM_017014673.2:c.622G>T	XP_016870162.1:p.Glu208Ter
XM_017014674.1:c.550G>T	XP_016870163.1:p.Glu184Ter
XM_017014675.1:c.496G>T	XP_016870164.1:p.Glu166Ter
XM_017014677.1:c.298G>T	XP_016870166.1:p.Glu100Ter
XM_024447529.1:c.496G>T	XP_024303297.1:p.Glu166Ter
XR_002956778.1:n.3092G>T