Canonical Allele Identifier: CA1127053149

Gene: HSD17B3 HSD17B3-AS1

Linked Data

• dbSNP Id: rs1836650453
• gnomAD v3: 9-96246086-C-A
• gnomAD v4: 9-96246086-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96246086C>A , CM000671.2:g.96246086C>A	GRCh38
NC_000009.11:g.99008368C>A , CM000671.1:g.99008368C>A	GRCh37
NC_000009.10:g.98048189C>A	NCBI36
NG_008157.1:g.61067G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.524+470G>T (HSD17B3)	ENSP00000364411.2:n.524+470G>T
ENST00000375263.8:c.524+470G>T (HSD17B3) MANE Select	ENSP00000364412.3:n.524+470G>T
ENST00000463517.2:n.2044+470G>T
ENST00000464104.6:n.1462+470G>T
ENST00000467499.6:c.*223+470G>T (HSD17B3)	ENSP00000498077.1:n.*223+470G>T
ENST00000494814.6:n.37-660G>T (HSD17B3)
ENST00000643789.1:c.2816+470G>T
ENST00000648146.1:c.524+470G>T (HSD17B3)	ENSP00000497238.1:n.524+470G>T
ENST00000648332.1:c.202-660G>T (HSD17B3)	ENSP00000497562.1:n.202-660G>T
ENST00000648799.1:c.416+470G>T (HSD17B3)	ENSP00000498039.1:n.416+470G>T
ENST00000650005.1:c.454-660G>T (HSD17B3)	ENSP00000498121.1:n.454-660G>T
ENST00000375262.3:c.524+470G>T (HSD17B3)	ENSP00000364411.2:n.524+470G>T
ENST00000375263.7:c.524+470G>T (HSD17B3)	ENSP00000364412.3:n.524+470G>T
ENST00000464104.5:n.377+470G>T (HSD17B3)
ENST00000494814.5:n.46-660G>T (HSD17B3)
NM_000197.1:c.524+470G>T (HSD17B3)	NP_000188.1:n.524+470G>T
XM_005251970.3:c.164+470G>T (HSD17B3)	XP_005252027.1:n.164+470G>T
XM_011518618.1:c.524+470G>T (HSD17B3)	XP_011516920.1:n.524+470G>T
XM_011518619.1:c.524+470G>T (HSD17B3)	XP_011516921.1:n.524+470G>T
XM_011518620.1:c.416+470G>T (HSD17B3)	XP_011516922.1:n.416+470G>T
XM_011518621.1:c.524+470G>T (HSD17B3)	XP_011516923.1:n.524+470G>T
XR_930147.1:n.652C>A (HSD17B3-AS1)
XR_930148.1:n.652C>A (HSD17B3-AS1)
NM_000197.2:c.524+470G>T (HSD17B3) MANE Select	NP_000188.1:n.524+470G>T
XM_011518618.2:c.524+470G>T (HSD17B3)	XP_011516920.1:n.524+470G>T
XM_011518619.2:c.524+470G>T (HSD17B3)	XP_011516921.1:n.524+470G>T
XM_017014671.1:c.524+470G>T (HSD17B3)	XP_016870160.1:n.524+470G>T
XM_017014672.1:c.524+470G>T (HSD17B3)	XP_016870161.1:n.524+470G>T
XM_017014673.2:c.488+470G>T (HSD17B3)	XP_016870162.1:n.488+470G>T
XM_017014674.1:c.416+470G>T (HSD17B3)	XP_016870163.1:n.416+470G>T
XM_017014675.1:c.362+470G>T (HSD17B3)	XP_016870164.1:n.362+470G>T
XM_017014677.1:c.164+470G>T (HSD17B3)	XP_016870166.1:n.164+470G>T
XM_024447529.1:c.362+470G>T (HSD17B3)	XP_024303297.1:n.362+470G>T
XR_002956778.1:n.2958+470G>T (HSD17B3)