Canonical Allele Identifier: CA5140310

Gene: HSD17B3

Linked Data

• dbSNP Id: rs563137632
• ExAC: 9:99006616 T / C
• gnomAD v2: 9-99006616-T-C
• gnomAD v3: 9-96244334-T-C
• gnomAD v4: 9-96244334-T-C
• MyVariant Identifiers: chr9:g.99006616T>C (hg19) ; chr9:g.96244334T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244334T>C , CM000671.2:g.96244334T>C	GRCh38
NC_000009.11:g.99006616T>C , CM000671.1:g.99006616T>C	GRCh37
NC_000009.10:g.98046437T>C	NCBI36
NG_008157.1:g.62819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.667A>G	ENSP00000364411.2:p.Ile223Val
ENST00000375263.8:c.667A>G MANE Select	ENSP00000364412.3:p.Ile223Val
ENST00000463517.2:n.2209A>G
ENST00000464104.6:n.1605A>G
ENST00000467499.6:c.*366A>G	ENSP00000498077.1:n.*366A>G
ENST00000484816.2:n.18A>G
ENST00000494814.6:n.179A>G
ENST00000643789.1:c.2959A>G
ENST00000648146.1:c.667A>G	ENSP00000497238.1:p.Ile223Val
ENST00000648332.1:c.344A>G	ENSP00000497562.1:n.344A>G
ENST00000648799.1:c.559A>G	ENSP00000498039.1:p.Ile187Val
ENST00000650005.1:c.596A>G	ENSP00000498121.1:n.596A>G
ENST00000375262.3:c.667A>G	ENSP00000364411.2:p.Ile223Val
ENST00000375263.7:c.667A>G	ENSP00000364412.3:p.Ile223Val
ENST00000464104.5:n.520A>G
ENST00000484816.1:n.17A>G
ENST00000494814.5:n.188A>G
NM_000197.1:c.667A>G	NP_000188.1:p.Ile223Val
XM_005251970.3:c.307A>G	XP_005252027.1:p.Ile103Val
XM_011518618.1:c.667A>G	XP_011516920.1:p.Ile223Val
XM_011518619.1:c.667A>G	XP_011516921.1:p.Ile223Val
XM_011518620.1:c.559A>G	XP_011516922.1:p.Ile187Val
XM_011518621.1:c.667A>G	XP_011516923.1:p.Ile223Val
NM_000197.2:c.667A>G MANE Select	NP_000188.1:p.Ile223Val
XM_011518618.2:c.667A>G	XP_011516920.1:p.Ile223Val
XM_011518619.2:c.667A>G	XP_011516921.1:p.Ile223Val
XM_017014671.1:c.667A>G	XP_016870160.1:p.Ile223Val
XM_017014672.1:c.667A>G	XP_016870161.1:p.Ile223Val
XM_017014673.2:c.631A>G	XP_016870162.1:p.Ile211Val
XM_017014674.1:c.559A>G	XP_016870163.1:p.Ile187Val
XM_017014675.1:c.505A>G	XP_016870164.1:p.Ile169Val
XM_017014677.1:c.307A>G	XP_016870166.1:p.Ile103Val
XM_024447529.1:c.505A>G	XP_024303297.1:p.Ile169Val
XR_002956778.1:n.3101A>G