Canonical Allele Identifier: CA374123528

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006638T>G (hg19) ; chr9:g.96244356T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244356T>G , CM000671.2:g.96244356T>G	GRCh38
NC_000009.11:g.99006638T>G , CM000671.1:g.99006638T>G	GRCh37
NC_000009.10:g.98046459T>G	NCBI36
NG_008157.1:g.62797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.645A>C	ENSP00000364411.2:p.Glu215Asp
ENST00000375263.8:c.645A>C MANE Select	ENSP00000364412.3:p.Glu215Asp
ENST00000463517.2:n.2187A>C
ENST00000464104.6:n.1583A>C
ENST00000467499.6:c.*344A>C	ENSP00000498077.1:n.*344A>C
ENST00000494814.6:n.157A>C
ENST00000643789.1:c.2937A>C
ENST00000648146.1:c.645A>C	ENSP00000497238.1:p.Glu215Asp
ENST00000648332.1:c.322A>C	ENSP00000497562.1:p.Ile108Leu
ENST00000648799.1:c.537A>C	ENSP00000498039.1:p.Glu179Asp
ENST00000650005.1:c.574A>C	ENSP00000498121.1:p.Ile192Leu
ENST00000375262.3:c.645A>C	ENSP00000364411.2:p.Glu215Asp
ENST00000375263.7:c.645A>C	ENSP00000364412.3:p.Glu215Asp
ENST00000464104.5:n.498A>C
ENST00000494814.5:n.166A>C
NM_000197.1:c.645A>C	NP_000188.1:p.Glu215Asp
XM_005251970.3:c.285A>C	XP_005252027.1:p.Glu95Asp
XM_011518618.1:c.645A>C	XP_011516920.1:p.Glu215Asp
XM_011518619.1:c.645A>C	XP_011516921.1:p.Glu215Asp
XM_011518620.1:c.537A>C	XP_011516922.1:p.Glu179Asp
XM_011518621.1:c.645A>C	XP_011516923.1:p.Glu215Asp
NM_000197.2:c.645A>C MANE Select	NP_000188.1:p.Glu215Asp
XM_011518618.2:c.645A>C	XP_011516920.1:p.Glu215Asp
XM_011518619.2:c.645A>C	XP_011516921.1:p.Glu215Asp
XM_017014671.1:c.645A>C	XP_016870160.1:p.Glu215Asp
XM_017014672.1:c.645A>C	XP_016870161.1:p.Glu215Asp
XM_017014673.2:c.609A>C	XP_016870162.1:p.Glu203Asp
XM_017014674.1:c.537A>C	XP_016870163.1:p.Glu179Asp
XM_017014675.1:c.483A>C	XP_016870164.1:p.Glu161Asp
XM_017014677.1:c.285A>C	XP_016870166.1:p.Glu95Asp
XM_024447529.1:c.483A>C	XP_024303297.1:p.Glu161Asp
XR_002956778.1:n.3079A>C