Canonical Allele Identifier: CA374121742

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997791A>C (hg19) ; chr9:g.96235509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235509A>C , CM000671.2:g.96235509A>C	GRCh38
NC_000009.11:g.98997791A>C , CM000671.1:g.98997791A>C	GRCh37
NC_000009.10:g.98037612A>C	NCBI36
NG_008157.1:g.71644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.734T>G	ENSP00000364411.2:p.Leu245Arg
ENST00000375263.8:c.884T>G MANE Select	ENSP00000364412.3:p.Leu295Arg
ENST00000463517.2:n.2426T>G
ENST00000464104.6:n.1822T>G
ENST00000467499.6:c.*583T>G	ENSP00000498077.1:n.*583T>G
ENST00000494814.6:n.434T>G
ENST00000643789.1:c.3176T>G
ENST00000648146.1:c.1022T>G	ENSP00000497238.1:n.1022T>G
ENST00000648332.1:c.561T>G	ENSP00000497562.1:n.561T>G
ENST00000650005.1:c.813T>G	ENSP00000498121.1:n.813T>G
ENST00000375262.3:c.734T>G	ENSP00000364411.2:p.Leu245Arg
ENST00000375263.7:c.884T>G	ENSP00000364412.3:p.Leu295Arg
ENST00000464104.5:n.737T>G
ENST00000467499.5:n.144T>G
ENST00000494814.5:n.443T>G
NM_000197.1:c.884T>G	NP_000188.1:p.Leu295Arg
XM_005251970.3:c.524T>G	XP_005252027.1:p.Leu175Arg
XM_011518618.1:c.884T>G	XP_011516920.1:p.Leu295Arg
XM_011518619.1:c.884T>G	XP_011516921.1:p.Leu295Arg
XM_011518620.1:c.776T>G	XP_011516922.1:p.Leu259Arg
NM_000197.2:c.884T>G MANE Select	NP_000188.1:p.Leu295Arg
XM_011518618.2:c.884T>G	XP_011516920.1:p.Leu295Arg
XM_011518619.2:c.884T>G	XP_011516921.1:p.Leu295Arg
XM_017014671.1:c.884T>G	XP_016870160.1:p.Leu295Arg
XM_017014672.1:c.884T>G	XP_016870161.1:p.Leu295Arg
XM_017014673.2:c.848T>G	XP_016870162.1:p.Leu283Arg
XM_017014674.1:c.776T>G	XP_016870163.1:p.Leu259Arg
XM_017014675.1:c.722T>G	XP_016870164.1:p.Leu241Arg
XM_017014677.1:c.524T>G	XP_016870166.1:p.Leu175Arg
XM_024447529.1:c.722T>G	XP_024303297.1:p.Leu241Arg
XR_002956778.1:n.3356T>G