Canonical Allele Identifier: CA5140219

Gene: HSD17B3

Linked Data

• dbSNP Id: rs754889908
• ExAC: 9:98997734 C / T
• gnomAD v2: 9-98997734-C-T
• gnomAD v4: 9-96235452-C-T
• MyVariant Identifiers: chr9:g.98997734C>T (hg19) ; chr9:g.96235452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235452C>T , CM000671.2:g.96235452C>T	GRCh38
NC_000009.11:g.98997734C>T , CM000671.1:g.98997734C>T	GRCh37
NC_000009.10:g.98037555C>T	NCBI36
NG_008157.1:g.71701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*8G>A MANE Select	ENSP00000364412.3:n.*8G>A
ENST00000463517.2:n.2483G>A
ENST00000464104.6:n.1879G>A
ENST00000467499.6:c.*640G>A	ENSP00000498077.1:n.*640G>A
ENST00000494814.6:n.491G>A
ENST00000643789.1:c.3233G>A
ENST00000375262.3:c.*8G>A	ENSP00000364411.2:n.*8G>A
ENST00000375263.7:c.*8G>A	ENSP00000364412.3:n.*8G>A
ENST00000464104.5:n.794G>A
ENST00000467499.5:n.201G>A
ENST00000494814.5:n.500G>A
NM_000197.1:c.*8G>A	NP_000188.1:n.*8G>A
XM_005251970.3:c.*8G>A	XP_005252027.1:n.*8G>A
XM_011518618.1:c.*8G>A	XP_011516920.1:n.*8G>A
XM_011518619.1:c.*8G>A	XP_011516921.1:n.*8G>A
XM_011518620.1:c.*8G>A	XP_011516922.1:n.*8G>A
NM_000197.2:c.*8G>A MANE Select	NP_000188.1:n.*8G>A
XM_011518618.2:c.*8G>A	XP_011516920.1:n.*8G>A
XM_011518619.2:c.*8G>A	XP_011516921.1:n.*8G>A
XM_017014671.1:c.*8G>A	XP_016870160.1:n.*8G>A
XM_017014672.1:c.*8G>A	XP_016870161.1:n.*8G>A
XM_017014673.2:c.*8G>A	XP_016870162.1:n.*8G>A
XM_017014674.1:c.*8G>A	XP_016870163.1:n.*8G>A
XM_017014675.1:c.*8G>A	XP_016870164.1:n.*8G>A
XM_017014677.1:c.*8G>A	XP_016870166.1:n.*8G>A
XM_024447529.1:c.*8G>A	XP_024303297.1:n.*8G>A
XR_002956778.1:n.3413G>A