Canonical Allele Identifier: CA374123489

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006631C>A (hg19) ; chr9:g.96244349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244349C>A , CM000671.2:g.96244349C>A	GRCh38
NC_000009.11:g.99006631C>A , CM000671.1:g.99006631C>A	GRCh37
NC_000009.10:g.98046452C>A	NCBI36
NG_008157.1:g.62804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.652G>T	ENSP00000364411.2:p.Ala218Ser
ENST00000375263.8:c.652G>T MANE Select	ENSP00000364412.3:p.Ala218Ser
ENST00000463517.2:n.2194G>T
ENST00000464104.6:n.1590G>T
ENST00000467499.6:c.*351G>T	ENSP00000498077.1:n.*351G>T
ENST00000484816.2:n.3G>T
ENST00000494814.6:n.164G>T
ENST00000643789.1:c.2944G>T
ENST00000648146.1:c.652G>T	ENSP00000497238.1:p.Ala218Ser
ENST00000648332.1:c.329G>T	ENSP00000497562.1:n.329G>T
ENST00000648799.1:c.544G>T	ENSP00000498039.1:p.Ala182Ser
ENST00000650005.1:c.581G>T	ENSP00000498121.1:n.581G>T
ENST00000375262.3:c.652G>T	ENSP00000364411.2:p.Ala218Ser
ENST00000375263.7:c.652G>T	ENSP00000364412.3:p.Ala218Ser
ENST00000464104.5:n.505G>T
ENST00000484816.1:n.2G>T
ENST00000494814.5:n.173G>T
NM_000197.1:c.652G>T	NP_000188.1:p.Ala218Ser
XM_005251970.3:c.292G>T	XP_005252027.1:p.Ala98Ser
XM_011518618.1:c.652G>T	XP_011516920.1:p.Ala218Ser
XM_011518619.1:c.652G>T	XP_011516921.1:p.Ala218Ser
XM_011518620.1:c.544G>T	XP_011516922.1:p.Ala182Ser
XM_011518621.1:c.652G>T	XP_011516923.1:p.Ala218Ser
NM_000197.2:c.652G>T MANE Select	NP_000188.1:p.Ala218Ser
XM_011518618.2:c.652G>T	XP_011516920.1:p.Ala218Ser
XM_011518619.2:c.652G>T	XP_011516921.1:p.Ala218Ser
XM_017014671.1:c.652G>T	XP_016870160.1:p.Ala218Ser
XM_017014672.1:c.652G>T	XP_016870161.1:p.Ala218Ser
XM_017014673.2:c.616G>T	XP_016870162.1:p.Ala206Ser
XM_017014674.1:c.544G>T	XP_016870163.1:p.Ala182Ser
XM_017014675.1:c.490G>T	XP_016870164.1:p.Ala164Ser
XM_017014677.1:c.292G>T	XP_016870166.1:p.Ala98Ser
XM_024447529.1:c.490G>T	XP_024303297.1:p.Ala164Ser
XR_002956778.1:n.3086G>T