Canonical Allele Identifier: CA5140215

Gene: HSD17B3

Linked Data

• dbSNP Id: rs34268513
• ExAC: 9:98997717 T / C
• gnomAD v2: 9-98997717-T-C
• gnomAD v3: 9-96235435-T-C
• gnomAD v4: 9-96235435-T-C
• MyVariant Identifiers: chr9:g.98997717T>C (hg19) ; chr9:g.96235435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235435T>C , CM000671.2:g.96235435T>C	GRCh38
NC_000009.11:g.98997717T>C , CM000671.1:g.98997717T>C	GRCh37
NC_000009.10:g.98037538T>C	NCBI36
NG_008157.1:g.71718A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375263.8:c.*25A>G MANE Select	ENSP00000364412.3:n.*25A>G
ENST00000463517.2:n.2500A>G
ENST00000464104.6:n.1896A>G
ENST00000467499.6:c.*657A>G	ENSP00000498077.1:n.*657A>G
ENST00000494814.6:n.508A>G
ENST00000643789.1:c.3250A>G
ENST00000375262.3:c.*25A>G	ENSP00000364411.2:n.*25A>G
ENST00000375263.7:c.*25A>G	ENSP00000364412.3:n.*25A>G
ENST00000464104.5:n.811A>G
ENST00000467499.5:n.218A>G
ENST00000494814.5:n.517A>G
NM_000197.1:c.*25A>G	NP_000188.1:n.*25A>G
XM_005251970.3:c.*25A>G	XP_005252027.1:n.*25A>G
XM_011518618.1:c.*25A>G	XP_011516920.1:n.*25A>G
XM_011518619.1:c.*25A>G	XP_011516921.1:n.*25A>G
XM_011518620.1:c.*25A>G	XP_011516922.1:n.*25A>G
NM_000197.2:c.*25A>G MANE Select	NP_000188.1:n.*25A>G
XM_011518618.2:c.*25A>G	XP_011516920.1:n.*25A>G
XM_011518619.2:c.*25A>G	XP_011516921.1:n.*25A>G
XM_017014671.1:c.*25A>G	XP_016870160.1:n.*25A>G
XM_017014672.1:c.*25A>G	XP_016870161.1:n.*25A>G
XM_017014673.2:c.*25A>G	XP_016870162.1:n.*25A>G
XM_017014674.1:c.*25A>G	XP_016870163.1:n.*25A>G
XM_017014675.1:c.*25A>G	XP_016870164.1:n.*25A>G
XM_017014677.1:c.*25A>G	XP_016870166.1:n.*25A>G
XM_024447529.1:c.*25A>G	XP_024303297.1:n.*25A>G
XR_002956778.1:n.3430A>G