Canonical Allele Identifier: CA374123548

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1256064625
• gnomAD v3: 9-96244359-C-A
• gnomAD v4: 9-96244359-C-A
• MyVariant Identifiers: chr9:g.99006641C>A (hg19) ; chr9:g.96244359C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244359C>A , CM000671.2:g.96244359C>A	GRCh38
NC_000009.11:g.99006641C>A , CM000671.1:g.99006641C>A	GRCh37
NC_000009.10:g.98046462C>A	NCBI36
NG_008157.1:g.62794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.642G>T	ENSP00000364411.2:p.Glu214Asp
ENST00000375263.8:c.642G>T MANE Select	ENSP00000364412.3:p.Glu214Asp
ENST00000463517.2:n.2184G>T
ENST00000464104.6:n.1580G>T
ENST00000467499.6:c.*341G>T	ENSP00000498077.1:n.*341G>T
ENST00000494814.6:n.154G>T
ENST00000643789.1:c.2934G>T
ENST00000648146.1:c.642G>T	ENSP00000497238.1:p.Glu214Asp
ENST00000648332.1:c.319G>T	ENSP00000497562.1:p.Gly107Ter
ENST00000648799.1:c.534G>T	ENSP00000498039.1:p.Glu178Asp
ENST00000650005.1:c.571G>T	ENSP00000498121.1:p.Gly191Ter
ENST00000375262.3:c.642G>T	ENSP00000364411.2:p.Glu214Asp
ENST00000375263.7:c.642G>T	ENSP00000364412.3:p.Glu214Asp
ENST00000464104.5:n.495G>T
ENST00000494814.5:n.163G>T
NM_000197.1:c.642G>T	NP_000188.1:p.Glu214Asp
XM_005251970.3:c.282G>T	XP_005252027.1:p.Glu94Asp
XM_011518618.1:c.642G>T	XP_011516920.1:p.Glu214Asp
XM_011518619.1:c.642G>T	XP_011516921.1:p.Glu214Asp
XM_011518620.1:c.534G>T	XP_011516922.1:p.Glu178Asp
XM_011518621.1:c.642G>T	XP_011516923.1:p.Glu214Asp
NM_000197.2:c.642G>T MANE Select	NP_000188.1:p.Glu214Asp
XM_011518618.2:c.642G>T	XP_011516920.1:p.Glu214Asp
XM_011518619.2:c.642G>T	XP_011516921.1:p.Glu214Asp
XM_017014671.1:c.642G>T	XP_016870160.1:p.Glu214Asp
XM_017014672.1:c.642G>T	XP_016870161.1:p.Glu214Asp
XM_017014673.2:c.606G>T	XP_016870162.1:p.Glu202Asp
XM_017014674.1:c.534G>T	XP_016870163.1:p.Glu178Asp
XM_017014675.1:c.480G>T	XP_016870164.1:p.Glu160Asp
XM_017014677.1:c.282G>T	XP_016870166.1:p.Glu94Asp
XM_024447529.1:c.480G>T	XP_024303297.1:p.Glu160Asp
XR_002956778.1:n.3076G>T