Canonical Allele Identifier: CA5140303

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 255510
• ClinVar RCV Id: RCV000244715 ; RCV001651112
• dbSNP Id: rs2066486
• ExAC: 9:99006578 T / C
• gnomAD v2: 9-99006578-T-C
• gnomAD v3: 9-96244296-T-C
• gnomAD v4: 9-96244296-T-C
• MyVariant Identifiers: chr9:g.99006578T>C (hg19) ; chr9:g.96244296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244296T>C , CM000671.2:g.96244296T>C	GRCh38
NC_000009.11:g.99006578T>C , CM000671.1:g.99006578T>C	GRCh37
NC_000009.10:g.98046399T>C	NCBI36
NG_008157.1:g.62857A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+33A>G	ENSP00000364411.2:n.672+33A>G
ENST00000375263.8:c.672+33A>G MANE Select	ENSP00000364412.3:n.672+33A>G
ENST00000463517.2:n.2214+33A>G
ENST00000464104.6:n.1610+33A>G
ENST00000467499.6:c.*371+33A>G	ENSP00000498077.1:n.*371+33A>G
ENST00000484816.2:n.23+33A>G
ENST00000494814.6:n.217A>G
ENST00000643789.1:c.2964+33A>G
ENST00000648146.1:c.672+33A>G	ENSP00000497238.1:n.672+33A>G
ENST00000648332.1:c.349+33A>G	ENSP00000497562.1:n.349+33A>G
ENST00000648799.1:c.564+33A>G	ENSP00000498039.1:n.564+33A>G
ENST00000650005.1:c.601+33A>G	ENSP00000498121.1:n.601+33A>G
ENST00000375262.3:c.672+33A>G	ENSP00000364411.2:n.672+33A>G
ENST00000375263.7:c.672+33A>G	ENSP00000364412.3:n.672+33A>G
ENST00000464104.5:n.525+33A>G
ENST00000484816.1:n.22+33A>G
ENST00000494814.5:n.226A>G
NM_000197.1:c.672+33A>G	NP_000188.1:n.672+33A>G
XM_005251970.3:c.312+33A>G	XP_005252027.1:n.312+33A>G
XM_011518618.1:c.672+33A>G	XP_011516920.1:n.672+33A>G
XM_011518619.1:c.672+33A>G	XP_011516921.1:n.672+33A>G
XM_011518620.1:c.564+33A>G	XP_011516922.1:n.564+33A>G
XM_011518621.1:c.705A>G	XP_011516923.1:p.Ser235=
NM_000197.2:c.672+33A>G MANE Select	NP_000188.1:n.672+33A>G
XM_011518618.2:c.672+33A>G	XP_011516920.1:n.672+33A>G
XM_011518619.2:c.672+33A>G	XP_011516921.1:n.672+33A>G
XM_017014671.1:c.672+33A>G	XP_016870160.1:n.672+33A>G
XM_017014672.1:c.672+33A>G	XP_016870161.1:n.672+33A>G
XM_017014673.2:c.636+33A>G	XP_016870162.1:n.636+33A>G
XM_017014674.1:c.564+33A>G	XP_016870163.1:n.564+33A>G
XM_017014675.1:c.510+33A>G	XP_016870164.1:n.510+33A>G
XM_017014677.1:c.312+33A>G	XP_016870166.1:n.312+33A>G
XM_024447529.1:c.510+33A>G	XP_024303297.1:n.510+33A>G
XR_002956778.1:n.3139A>G