Canonical Allele Identifier: CA374121980

Gene: HSD17B3

Linked Data

• COSMIC: COSM4510673
• MyVariant Identifiers: chr9:g.98997831G>A (hg19) ; chr9:g.96235549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235549G>A , CM000671.2:g.96235549G>A	GRCh38
NC_000009.11:g.98997831G>A , CM000671.1:g.98997831G>A	GRCh37
NC_000009.10:g.98037652G>A	NCBI36
NG_008157.1:g.71604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.694C>T	ENSP00000364411.2:p.Pro232Ser
ENST00000375263.8:c.844C>T MANE Select	ENSP00000364412.3:p.Pro282Ser
ENST00000463517.2:n.2386C>T
ENST00000464104.6:n.1782C>T
ENST00000467499.6:c.*543C>T	ENSP00000498077.1:n.*543C>T
ENST00000494814.6:n.394C>T
ENST00000643789.1:c.3136C>T
ENST00000648146.1:c.982C>T	ENSP00000497238.1:n.982C>T
ENST00000648332.1:c.521C>T	ENSP00000497562.1:n.521C>T
ENST00000648799.1:c.736C>T
ENST00000650005.1:c.773C>T	ENSP00000498121.1:n.773C>T
ENST00000375262.3:c.694C>T	ENSP00000364411.2:p.Pro232Ser
ENST00000375263.7:c.844C>T	ENSP00000364412.3:p.Pro282Ser
ENST00000464104.5:n.697C>T
ENST00000467499.5:n.104C>T
ENST00000494814.5:n.403C>T
NM_000197.1:c.844C>T	NP_000188.1:p.Pro282Ser
XM_005251970.3:c.484C>T	XP_005252027.1:p.Pro162Ser
XM_011518618.1:c.844C>T	XP_011516920.1:p.Pro282Ser
XM_011518619.1:c.844C>T	XP_011516921.1:p.Pro282Ser
XM_011518620.1:c.736C>T	XP_011516922.1:p.Pro246Ser
NM_000197.2:c.844C>T MANE Select	NP_000188.1:p.Pro282Ser
XM_011518618.2:c.844C>T	XP_011516920.1:p.Pro282Ser
XM_011518619.2:c.844C>T	XP_011516921.1:p.Pro282Ser
XM_017014671.1:c.844C>T	XP_016870160.1:p.Pro282Ser
XM_017014672.1:c.844C>T	XP_016870161.1:p.Pro282Ser
XM_017014673.2:c.808C>T	XP_016870162.1:p.Pro270Ser
XM_017014674.1:c.736C>T	XP_016870163.1:p.Pro246Ser
XM_017014675.1:c.682C>T	XP_016870164.1:p.Pro228Ser
XM_017014677.1:c.484C>T	XP_016870166.1:p.Pro162Ser
XM_024447529.1:c.682C>T	XP_024303297.1:p.Pro228Ser
XR_002956778.1:n.3316C>T