Canonical Allele Identifier: CA374123584

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006649G>C (hg19) ; chr9:g.96244367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244367G>C , CM000671.2:g.96244367G>C	GRCh38
NC_000009.11:g.99006649G>C , CM000671.1:g.99006649G>C	GRCh37
NC_000009.10:g.98046470G>C	NCBI36
NG_008157.1:g.62786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.634C>G	ENSP00000364411.2:p.Leu212Val
ENST00000375263.8:c.634C>G MANE Select	ENSP00000364412.3:p.Leu212Val
ENST00000463517.2:n.2176C>G
ENST00000464104.6:n.1572C>G
ENST00000467499.6:c.*333C>G	ENSP00000498077.1:n.*333C>G
ENST00000494814.6:n.146C>G
ENST00000643789.1:c.2926C>G
ENST00000648146.1:c.634C>G	ENSP00000497238.1:p.Leu212Val
ENST00000648332.1:c.311C>G	ENSP00000497562.1:p.Pro104Arg
ENST00000648799.1:c.526C>G	ENSP00000498039.1:p.Leu176Val
ENST00000650005.1:c.563C>G	ENSP00000498121.1:p.Pro188Arg
ENST00000375262.3:c.634C>G	ENSP00000364411.2:p.Leu212Val
ENST00000375263.7:c.634C>G	ENSP00000364412.3:p.Leu212Val
ENST00000464104.5:n.487C>G
ENST00000494814.5:n.155C>G
NM_000197.1:c.634C>G	NP_000188.1:p.Leu212Val
XM_005251970.3:c.274C>G	XP_005252027.1:p.Leu92Val
XM_011518618.1:c.634C>G	XP_011516920.1:p.Leu212Val
XM_011518619.1:c.634C>G	XP_011516921.1:p.Leu212Val
XM_011518620.1:c.526C>G	XP_011516922.1:p.Leu176Val
XM_011518621.1:c.634C>G	XP_011516923.1:p.Leu212Val
NM_000197.2:c.634C>G MANE Select	NP_000188.1:p.Leu212Val
XM_011518618.2:c.634C>G	XP_011516920.1:p.Leu212Val
XM_011518619.2:c.634C>G	XP_011516921.1:p.Leu212Val
XM_017014671.1:c.634C>G	XP_016870160.1:p.Leu212Val
XM_017014672.1:c.634C>G	XP_016870161.1:p.Leu212Val
XM_017014673.2:c.598C>G	XP_016870162.1:p.Leu200Val
XM_017014674.1:c.526C>G	XP_016870163.1:p.Leu176Val
XM_017014675.1:c.472C>G	XP_016870164.1:p.Leu158Val
XM_017014677.1:c.274C>G	XP_016870166.1:p.Leu92Val
XM_024447529.1:c.472C>G	XP_024303297.1:p.Leu158Val
XR_002956778.1:n.3068C>G