Canonical Allele Identifier: CA5140314

Gene: HSD17B3

Linked Data

• dbSNP Id: rs754771900
• ExAC: 9:99006635 A / T
• gnomAD v2: 9-99006635-A-T
• gnomAD v4: 9-96244353-A-T
• MyVariant Identifiers: chr9:g.99006635A>T (hg19) ; chr9:g.96244353A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244353A>T , CM000671.2:g.96244353A>T	GRCh38
NC_000009.11:g.99006635A>T , CM000671.1:g.99006635A>T	GRCh37
NC_000009.10:g.98046456A>T	NCBI36
NG_008157.1:g.62800T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.648T>A	ENSP00000364411.2:p.Tyr216Ter
ENST00000375263.8:c.648T>A MANE Select	ENSP00000364412.3:p.Tyr216Ter
ENST00000463517.2:n.2190T>A
ENST00000464104.6:n.1586T>A
ENST00000467499.6:c.*347T>A	ENSP00000498077.1:n.*347T>A
ENST00000494814.6:n.160T>A
ENST00000643789.1:c.2940T>A
ENST00000648146.1:c.648T>A	ENSP00000497238.1:p.Tyr216Ter
ENST00000648332.1:c.325T>A	ENSP00000497562.1:p.Ter109Lys
ENST00000648799.1:c.540T>A	ENSP00000498039.1:p.Tyr180Ter
ENST00000650005.1:c.577T>A	ENSP00000498121.1:p.Ter193Lys
ENST00000375262.3:c.648T>A	ENSP00000364411.2:p.Tyr216Ter
ENST00000375263.7:c.648T>A	ENSP00000364412.3:p.Tyr216Ter
ENST00000464104.5:n.501T>A
ENST00000494814.5:n.169T>A
NM_000197.1:c.648T>A	NP_000188.1:p.Tyr216Ter
XM_005251970.3:c.288T>A	XP_005252027.1:p.Tyr96Ter
XM_011518618.1:c.648T>A	XP_011516920.1:p.Tyr216Ter
XM_011518619.1:c.648T>A	XP_011516921.1:p.Tyr216Ter
XM_011518620.1:c.540T>A	XP_011516922.1:p.Tyr180Ter
XM_011518621.1:c.648T>A	XP_011516923.1:p.Tyr216Ter
NM_000197.2:c.648T>A MANE Select	NP_000188.1:p.Tyr216Ter
XM_011518618.2:c.648T>A	XP_011516920.1:p.Tyr216Ter
XM_011518619.2:c.648T>A	XP_011516921.1:p.Tyr216Ter
XM_017014671.1:c.648T>A	XP_016870160.1:p.Tyr216Ter
XM_017014672.1:c.648T>A	XP_016870161.1:p.Tyr216Ter
XM_017014673.2:c.612T>A	XP_016870162.1:p.Tyr204Ter
XM_017014674.1:c.540T>A	XP_016870163.1:p.Tyr180Ter
XM_017014675.1:c.486T>A	XP_016870164.1:p.Tyr162Ter
XM_017014677.1:c.288T>A	XP_016870166.1:p.Tyr96Ter
XM_024447529.1:c.486T>A	XP_024303297.1:p.Tyr162Ter
XR_002956778.1:n.3082T>A