Canonical Allele Identifier: CA196609104

Gene: HSD17B3

Linked Data

• dbSNP Id: rs199951343
• gnomAD v3: 9-96235481-C-G
• gnomAD v4: 9-96235481-C-G
• MyVariant Identifiers: chr9:g.98997763C>G (hg19) ; chr9:g.96235481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235481C>G , CM000671.2:g.96235481C>G	GRCh38
NC_000009.11:g.98997763C>G , CM000671.1:g.98997763C>G	GRCh37
NC_000009.10:g.98037584C>G	NCBI36
NG_008157.1:g.71672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.762G>C	ENSP00000364411.2:p.Lys254Asn
ENST00000375263.8:c.912G>C MANE Select	ENSP00000364412.3:p.Lys304Asn
ENST00000463517.2:n.2454G>C
ENST00000464104.6:n.1850G>C
ENST00000467499.6:c.*611G>C	ENSP00000498077.1:n.*611G>C
ENST00000494814.6:n.462G>C
ENST00000643789.1:c.3204G>C
ENST00000648146.1:c.1050G>C	ENSP00000497238.1:n.1050G>C
ENST00000648332.1:c.589G>C	ENSP00000497562.1:n.589G>C
ENST00000650005.1:c.841G>C	ENSP00000498121.1:n.841G>C
ENST00000375262.3:c.762G>C	ENSP00000364411.2:p.Lys254Asn
ENST00000375263.7:c.912G>C	ENSP00000364412.3:p.Lys304Asn
ENST00000464104.5:n.765G>C
ENST00000467499.5:n.172G>C
ENST00000494814.5:n.471G>C
NM_000197.1:c.912G>C	NP_000188.1:p.Lys304Asn
XM_005251970.3:c.552G>C	XP_005252027.1:p.Lys184Asn
XM_011518618.1:c.912G>C	XP_011516920.1:p.Lys304Asn
XM_011518619.1:c.912G>C	XP_011516921.1:p.Lys304Asn
XM_011518620.1:c.804G>C	XP_011516922.1:p.Lys268Asn
NM_000197.2:c.912G>C MANE Select	NP_000188.1:p.Lys304Asn
XM_011518618.2:c.912G>C	XP_011516920.1:p.Lys304Asn
XM_011518619.2:c.912G>C	XP_011516921.1:p.Lys304Asn
XM_017014671.1:c.912G>C	XP_016870160.1:p.Lys304Asn
XM_017014672.1:c.912G>C	XP_016870161.1:p.Lys304Asn
XM_017014673.2:c.876G>C	XP_016870162.1:p.Lys292Asn
XM_017014674.1:c.804G>C	XP_016870163.1:p.Lys268Asn
XM_017014675.1:c.750G>C	XP_016870164.1:p.Lys250Asn
XM_017014677.1:c.552G>C	XP_016870166.1:p.Lys184Asn
XM_024447529.1:c.750G>C	XP_024303297.1:p.Lys250Asn
XR_002956778.1:n.3384G>C