Canonical Allele Identifier: CA374121648

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235496-A-C
• MyVariant Identifiers: chr9:g.98997778A>C (hg19) ; chr9:g.96235496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235496A>C , CM000671.2:g.96235496A>C	GRCh38
NC_000009.11:g.98997778A>C , CM000671.1:g.98997778A>C	GRCh37
NC_000009.10:g.98037599A>C	NCBI36
NG_008157.1:g.71657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.747T>G	ENSP00000364411.2:p.Tyr249Ter
ENST00000375263.8:c.897T>G MANE Select	ENSP00000364412.3:p.Tyr299Ter
ENST00000463517.2:n.2439T>G
ENST00000464104.6:n.1835T>G
ENST00000467499.6:c.*596T>G	ENSP00000498077.1:n.*596T>G
ENST00000494814.6:n.447T>G
ENST00000643789.1:c.3189T>G
ENST00000648146.1:c.1035T>G	ENSP00000497238.1:n.1035T>G
ENST00000648332.1:c.574T>G	ENSP00000497562.1:n.574T>G
ENST00000650005.1:c.826T>G	ENSP00000498121.1:n.826T>G
ENST00000375262.3:c.747T>G	ENSP00000364411.2:p.Tyr249Ter
ENST00000375263.7:c.897T>G	ENSP00000364412.3:p.Tyr299Ter
ENST00000464104.5:n.750T>G
ENST00000467499.5:n.157T>G
ENST00000494814.5:n.456T>G
NM_000197.1:c.897T>G	NP_000188.1:p.Tyr299Ter
XM_005251970.3:c.537T>G	XP_005252027.1:p.Tyr179Ter
XM_011518618.1:c.897T>G	XP_011516920.1:p.Tyr299Ter
XM_011518619.1:c.897T>G	XP_011516921.1:p.Tyr299Ter
XM_011518620.1:c.789T>G	XP_011516922.1:p.Tyr263Ter
NM_000197.2:c.897T>G MANE Select	NP_000188.1:p.Tyr299Ter
XM_011518618.2:c.897T>G	XP_011516920.1:p.Tyr299Ter
XM_011518619.2:c.897T>G	XP_011516921.1:p.Tyr299Ter
XM_017014671.1:c.897T>G	XP_016870160.1:p.Tyr299Ter
XM_017014672.1:c.897T>G	XP_016870161.1:p.Tyr299Ter
XM_017014673.2:c.861T>G	XP_016870162.1:p.Tyr287Ter
XM_017014674.1:c.789T>G	XP_016870163.1:p.Tyr263Ter
XM_017014675.1:c.735T>G	XP_016870164.1:p.Tyr245Ter
XM_017014677.1:c.537T>G	XP_016870166.1:p.Tyr179Ter
XM_024447529.1:c.735T>G	XP_024303297.1:p.Tyr245Ter
XR_002956778.1:n.3369T>G