Canonical Allele Identifier: CA5140230

Gene: HSD17B3

Linked Data

• dbSNP Id: rs372430180
• ExAC: 9:98997773 G / A
• gnomAD v2: 9-98997773-G-A
• gnomAD v3: 9-96235491-G-A
• gnomAD v4: 9-96235491-G-A
• MyVariant Identifiers: chr9:g.98997773G>A (hg19) ; chr9:g.96235491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235491G>A , CM000671.2:g.96235491G>A	GRCh38
NC_000009.11:g.98997773G>A , CM000671.1:g.98997773G>A	GRCh37
NC_000009.10:g.98037594G>A	NCBI36
NG_008157.1:g.71662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.752C>T	ENSP00000364411.2:p.Ala251Val
ENST00000375263.8:c.902C>T MANE Select	ENSP00000364412.3:p.Ala301Val
ENST00000463517.2:n.2444C>T
ENST00000464104.6:n.1840C>T
ENST00000467499.6:c.*601C>T	ENSP00000498077.1:n.*601C>T
ENST00000494814.6:n.452C>T
ENST00000643789.1:c.3194C>T
ENST00000648146.1:c.1040C>T	ENSP00000497238.1:n.1040C>T
ENST00000648332.1:c.579C>T	ENSP00000497562.1:n.579C>T
ENST00000650005.1:c.831C>T	ENSP00000498121.1:n.831C>T
ENST00000375262.3:c.752C>T	ENSP00000364411.2:p.Ala251Val
ENST00000375263.7:c.902C>T	ENSP00000364412.3:p.Ala301Val
ENST00000464104.5:n.755C>T
ENST00000467499.5:n.162C>T
ENST00000494814.5:n.461C>T
NM_000197.1:c.902C>T	NP_000188.1:p.Ala301Val
XM_005251970.3:c.542C>T	XP_005252027.1:p.Ala181Val
XM_011518618.1:c.902C>T	XP_011516920.1:p.Ala301Val
XM_011518619.1:c.902C>T	XP_011516921.1:p.Ala301Val
XM_011518620.1:c.794C>T	XP_011516922.1:p.Ala265Val
NM_000197.2:c.902C>T MANE Select	NP_000188.1:p.Ala301Val
XM_011518618.2:c.902C>T	XP_011516920.1:p.Ala301Val
XM_011518619.2:c.902C>T	XP_011516921.1:p.Ala301Val
XM_017014671.1:c.902C>T	XP_016870160.1:p.Ala301Val
XM_017014672.1:c.902C>T	XP_016870161.1:p.Ala301Val
XM_017014673.2:c.866C>T	XP_016870162.1:p.Ala289Val
XM_017014674.1:c.794C>T	XP_016870163.1:p.Ala265Val
XM_017014675.1:c.740C>T	XP_016870164.1:p.Ala247Val
XM_017014677.1:c.542C>T	XP_016870166.1:p.Ala181Val
XM_024447529.1:c.740C>T	XP_024303297.1:p.Ala247Val
XR_002956778.1:n.3374C>T