Canonical Allele Identifier: CA5140228

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2052231
• ClinVar RCV Id: RCV002932577
• dbSNP Id: rs139097858
• ExAC: 9:98997753 T / A
• gnomAD v2: 9-98997753-T-A
• gnomAD v3: 9-96235471-T-A
• gnomAD v4: 9-96235471-T-A
• MyVariant Identifiers: chr9:g.98997753T>A (hg19) ; chr9:g.96235471T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235471T>A , CM000671.2:g.96235471T>A	GRCh38
NC_000009.11:g.98997753T>A , CM000671.1:g.98997753T>A	GRCh37
NC_000009.10:g.98037574T>A	NCBI36
NG_008157.1:g.71682A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.772A>T	ENSP00000364411.2:p.Lys258Ter
ENST00000375263.8:c.922A>T MANE Select	ENSP00000364412.3:p.Lys308Ter
ENST00000463517.2:n.2464A>T
ENST00000464104.6:n.1860A>T
ENST00000467499.6:c.*621A>T	ENSP00000498077.1:n.*621A>T
ENST00000494814.6:n.472A>T
ENST00000643789.1:c.3214A>T
ENST00000648146.1:c.1060A>T	ENSP00000497238.1:n.1060A>T
ENST00000648332.1:c.599A>T	ENSP00000497562.1:n.599A>T
ENST00000650005.1:c.851A>T	ENSP00000498121.1:n.851A>T
ENST00000375262.3:c.772A>T	ENSP00000364411.2:p.Lys258Ter
ENST00000375263.7:c.922A>T	ENSP00000364412.3:p.Lys308Ter
ENST00000464104.5:n.775A>T
ENST00000467499.5:n.182A>T
ENST00000494814.5:n.481A>T
NM_000197.1:c.922A>T	NP_000188.1:p.Lys308Ter
XM_005251970.3:c.562A>T	XP_005252027.1:p.Lys188Ter
XM_011518618.1:c.922A>T	XP_011516920.1:p.Lys308Ter
XM_011518619.1:c.922A>T	XP_011516921.1:p.Lys308Ter
XM_011518620.1:c.814A>T	XP_011516922.1:p.Lys272Ter
NM_000197.2:c.922A>T MANE Select	NP_000188.1:p.Lys308Ter
XM_011518618.2:c.922A>T	XP_011516920.1:p.Lys308Ter
XM_011518619.2:c.922A>T	XP_011516921.1:p.Lys308Ter
XM_017014671.1:c.922A>T	XP_016870160.1:p.Lys308Ter
XM_017014672.1:c.922A>T	XP_016870161.1:p.Lys308Ter
XM_017014673.2:c.886A>T	XP_016870162.1:p.Lys296Ter
XM_017014674.1:c.814A>T	XP_016870163.1:p.Lys272Ter
XM_017014675.1:c.760A>T	XP_016870164.1:p.Lys254Ter
XM_017014677.1:c.562A>T	XP_016870166.1:p.Lys188Ter
XM_024447529.1:c.760A>T	XP_024303297.1:p.Lys254Ter
XR_002956778.1:n.3394A>T