Canonical Allele Identifier: CA374123497

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96244350-T-G
• MyVariant Identifiers: chr9:g.99006632T>G (hg19) ; chr9:g.96244350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244350T>G , CM000671.2:g.96244350T>G	GRCh38
NC_000009.11:g.99006632T>G , CM000671.1:g.99006632T>G	GRCh37
NC_000009.10:g.98046453T>G	NCBI36
NG_008157.1:g.62803A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.651A>C	ENSP00000364411.2:p.Lys217Asn
ENST00000375263.8:c.651A>C MANE Select	ENSP00000364412.3:p.Lys217Asn
ENST00000463517.2:n.2193A>C
ENST00000464104.6:n.1589A>C
ENST00000467499.6:c.*350A>C	ENSP00000498077.1:n.*350A>C
ENST00000484816.2:n.2A>C
ENST00000494814.6:n.163A>C
ENST00000643789.1:c.2943A>C
ENST00000648146.1:c.651A>C	ENSP00000497238.1:p.Lys217Asn
ENST00000648332.1:c.328A>C	ENSP00000497562.1:n.328A>C
ENST00000648799.1:c.543A>C	ENSP00000498039.1:p.Lys181Asn
ENST00000650005.1:c.580A>C	ENSP00000498121.1:n.580A>C
ENST00000375262.3:c.651A>C	ENSP00000364411.2:p.Lys217Asn
ENST00000375263.7:c.651A>C	ENSP00000364412.3:p.Lys217Asn
ENST00000464104.5:n.504A>C
ENST00000484816.1:n.1A>C
ENST00000494814.5:n.172A>C
NM_000197.1:c.651A>C	NP_000188.1:p.Lys217Asn
XM_005251970.3:c.291A>C	XP_005252027.1:p.Lys97Asn
XM_011518618.1:c.651A>C	XP_011516920.1:p.Lys217Asn
XM_011518619.1:c.651A>C	XP_011516921.1:p.Lys217Asn
XM_011518620.1:c.543A>C	XP_011516922.1:p.Lys181Asn
XM_011518621.1:c.651A>C	XP_011516923.1:p.Lys217Asn
NM_000197.2:c.651A>C MANE Select	NP_000188.1:p.Lys217Asn
XM_011518618.2:c.651A>C	XP_011516920.1:p.Lys217Asn
XM_011518619.2:c.651A>C	XP_011516921.1:p.Lys217Asn
XM_017014671.1:c.651A>C	XP_016870160.1:p.Lys217Asn
XM_017014672.1:c.651A>C	XP_016870161.1:p.Lys217Asn
XM_017014673.2:c.615A>C	XP_016870162.1:p.Lys205Asn
XM_017014674.1:c.543A>C	XP_016870163.1:p.Lys181Asn
XM_017014675.1:c.489A>C	XP_016870164.1:p.Lys163Asn
XM_017014677.1:c.291A>C	XP_016870166.1:p.Lys97Asn
XM_024447529.1:c.489A>C	XP_024303297.1:p.Lys163Asn
XR_002956778.1:n.3085A>C