Canonical Allele Identifier: CA374121882

Gene: HSD17B3

Linked Data

• COSMIC: COSM1315054
• MyVariant Identifiers: chr9:g.98997817G>C (hg19) ; chr9:g.96235535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235535G>C , CM000671.2:g.96235535G>C	GRCh38
NC_000009.11:g.98997817G>C , CM000671.1:g.98997817G>C	GRCh37
NC_000009.10:g.98037638G>C	NCBI36
NG_008157.1:g.71618C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.708C>G	ENSP00000364411.2:p.Phe236Leu
ENST00000375263.8:c.858C>G MANE Select	ENSP00000364412.3:p.Phe286Leu
ENST00000463517.2:n.2400C>G
ENST00000464104.6:n.1796C>G
ENST00000467499.6:c.*557C>G	ENSP00000498077.1:n.*557C>G
ENST00000494814.6:n.408C>G
ENST00000643789.1:c.3150C>G
ENST00000648146.1:c.996C>G	ENSP00000497238.1:n.996C>G
ENST00000648332.1:c.535C>G	ENSP00000497562.1:n.535C>G
ENST00000650005.1:c.787C>G	ENSP00000498121.1:n.787C>G
ENST00000375262.3:c.708C>G	ENSP00000364411.2:p.Phe236Leu
ENST00000375263.7:c.858C>G	ENSP00000364412.3:p.Phe286Leu
ENST00000464104.5:n.711C>G
ENST00000467499.5:n.118C>G
ENST00000494814.5:n.417C>G
NM_000197.1:c.858C>G	NP_000188.1:p.Phe286Leu
XM_005251970.3:c.498C>G	XP_005252027.1:p.Phe166Leu
XM_011518618.1:c.858C>G	XP_011516920.1:p.Phe286Leu
XM_011518619.1:c.858C>G	XP_011516921.1:p.Phe286Leu
XM_011518620.1:c.750C>G	XP_011516922.1:p.Phe250Leu
NM_000197.2:c.858C>G MANE Select	NP_000188.1:p.Phe286Leu
XM_011518618.2:c.858C>G	XP_011516920.1:p.Phe286Leu
XM_011518619.2:c.858C>G	XP_011516921.1:p.Phe286Leu
XM_017014671.1:c.858C>G	XP_016870160.1:p.Phe286Leu
XM_017014672.1:c.858C>G	XP_016870161.1:p.Phe286Leu
XM_017014673.2:c.822C>G	XP_016870162.1:p.Phe274Leu
XM_017014674.1:c.750C>G	XP_016870163.1:p.Phe250Leu
XM_017014675.1:c.696C>G	XP_016870164.1:p.Phe232Leu
XM_017014677.1:c.498C>G	XP_016870166.1:p.Phe166Leu
XM_024447529.1:c.696C>G	XP_024303297.1:p.Phe232Leu
XR_002956778.1:n.3330C>G