Canonical Allele Identifier: CA5140227

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 1979770
• ClinVar RCV Id: RCV002780087
• dbSNP Id: rs758786011
• ExAC: 9:98997752 T / G
• gnomAD v2: 9-98997752-T-G
• gnomAD v3: 9-96235470-T-G
• gnomAD v4: 9-96235470-T-G
• MyVariant Identifiers: chr9:g.98997752T>G (hg19) ; chr9:g.96235470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235470T>G , CM000671.2:g.96235470T>G	GRCh38
NC_000009.11:g.98997752T>G , CM000671.1:g.98997752T>G	GRCh37
NC_000009.10:g.98037573T>G	NCBI36
NG_008157.1:g.71683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.773A>C	ENSP00000364411.2:p.Lys258Thr
ENST00000375263.8:c.923A>C MANE Select	ENSP00000364412.3:p.Lys308Thr
ENST00000463517.2:n.2465A>C
ENST00000464104.6:n.1861A>C
ENST00000467499.6:c.*622A>C	ENSP00000498077.1:n.*622A>C
ENST00000494814.6:n.473A>C
ENST00000643789.1:c.3215A>C
ENST00000648146.1:c.1061A>C	ENSP00000497238.1:n.1061A>C
ENST00000648332.1:c.600A>C	ENSP00000497562.1:n.600A>C
ENST00000650005.1:c.852A>C	ENSP00000498121.1:n.852A>C
ENST00000375262.3:c.773A>C	ENSP00000364411.2:p.Lys258Thr
ENST00000375263.7:c.923A>C	ENSP00000364412.3:p.Lys308Thr
ENST00000464104.5:n.776A>C
ENST00000467499.5:n.183A>C
ENST00000494814.5:n.482A>C
NM_000197.1:c.923A>C	NP_000188.1:p.Lys308Thr
XM_005251970.3:c.563A>C	XP_005252027.1:p.Lys188Thr
XM_011518618.1:c.923A>C	XP_011516920.1:p.Lys308Thr
XM_011518619.1:c.923A>C	XP_011516921.1:p.Lys308Thr
XM_011518620.1:c.815A>C	XP_011516922.1:p.Lys272Thr
NM_000197.2:c.923A>C MANE Select	NP_000188.1:p.Lys308Thr
XM_011518618.2:c.923A>C	XP_011516920.1:p.Lys308Thr
XM_011518619.2:c.923A>C	XP_011516921.1:p.Lys308Thr
XM_017014671.1:c.923A>C	XP_016870160.1:p.Lys308Thr
XM_017014672.1:c.923A>C	XP_016870161.1:p.Lys308Thr
XM_017014673.2:c.887A>C	XP_016870162.1:p.Lys296Thr
XM_017014674.1:c.815A>C	XP_016870163.1:p.Lys272Thr
XM_017014675.1:c.761A>C	XP_016870164.1:p.Lys254Thr
XM_017014677.1:c.563A>C	XP_016870166.1:p.Lys188Thr
XM_024447529.1:c.761A>C	XP_024303297.1:p.Lys254Thr
XR_002956778.1:n.3395A>C