Canonical Allele Identifier: CA374121936

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997824C>G (hg19) ; chr9:g.96235542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235542C>G , CM000671.2:g.96235542C>G	GRCh38
NC_000009.11:g.98997824C>G , CM000671.1:g.98997824C>G	GRCh37
NC_000009.10:g.98037645C>G	NCBI36
NG_008157.1:g.71611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.701G>C	ENSP00000364411.2:p.Trp234Ser
ENST00000375263.8:c.851G>C MANE Select	ENSP00000364412.3:p.Trp284Ser
ENST00000463517.2:n.2393G>C
ENST00000464104.6:n.1789G>C
ENST00000467499.6:c.*550G>C	ENSP00000498077.1:n.*550G>C
ENST00000494814.6:n.401G>C
ENST00000643789.1:c.3143G>C
ENST00000648146.1:c.989G>C	ENSP00000497238.1:n.989G>C
ENST00000648332.1:c.528G>C	ENSP00000497562.1:n.528G>C
ENST00000650005.1:c.780G>C	ENSP00000498121.1:n.780G>C
ENST00000375262.3:c.701G>C	ENSP00000364411.2:p.Trp234Ser
ENST00000375263.7:c.851G>C	ENSP00000364412.3:p.Trp284Ser
ENST00000464104.5:n.704G>C
ENST00000467499.5:n.111G>C
ENST00000494814.5:n.410G>C
NM_000197.1:c.851G>C	NP_000188.1:p.Trp284Ser
XM_005251970.3:c.491G>C	XP_005252027.1:p.Trp164Ser
XM_011518618.1:c.851G>C	XP_011516920.1:p.Trp284Ser
XM_011518619.1:c.851G>C	XP_011516921.1:p.Trp284Ser
XM_011518620.1:c.743G>C	XP_011516922.1:p.Trp248Ser
NM_000197.2:c.851G>C MANE Select	NP_000188.1:p.Trp284Ser
XM_011518618.2:c.851G>C	XP_011516920.1:p.Trp284Ser
XM_011518619.2:c.851G>C	XP_011516921.1:p.Trp284Ser
XM_017014671.1:c.851G>C	XP_016870160.1:p.Trp284Ser
XM_017014672.1:c.851G>C	XP_016870161.1:p.Trp284Ser
XM_017014673.2:c.815G>C	XP_016870162.1:p.Trp272Ser
XM_017014674.1:c.743G>C	XP_016870163.1:p.Trp248Ser
XM_017014675.1:c.689G>C	XP_016870164.1:p.Trp230Ser
XM_017014677.1:c.491G>C	XP_016870166.1:p.Trp164Ser
XM_024447529.1:c.689G>C	XP_024303297.1:p.Trp230Ser
XR_002956778.1:n.3323G>C