Canonical Allele Identifier: CA5140222

Gene: HSD17B3

Linked Data

• dbSNP Id: rs539596011
• ExAC: 9:98997738 C / G
• gnomAD v2: 9-98997738-C-G
• gnomAD v3: 9-96235456-C-G
• gnomAD v4: 9-96235456-C-G
• MyVariant Identifiers: chr9:g.98997738C>G (hg19) ; chr9:g.96235456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235456C>G , CM000671.2:g.96235456C>G	GRCh38
NC_000009.11:g.98997738C>G , CM000671.1:g.98997738C>G	GRCh37
NC_000009.10:g.98037559C>G	NCBI36
NG_008157.1:g.71697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*4G>C MANE Select	ENSP00000364412.3:n.*4G>C
ENST00000463517.2:n.2479G>C
ENST00000464104.6:n.1875G>C
ENST00000467499.6:c.*636G>C	ENSP00000498077.1:n.*636G>C
ENST00000494814.6:n.487G>C
ENST00000643789.1:c.3229G>C
ENST00000375262.3:c.*4G>C	ENSP00000364411.2:n.*4G>C
ENST00000375263.7:c.*4G>C	ENSP00000364412.3:n.*4G>C
ENST00000464104.5:n.790G>C
ENST00000467499.5:n.197G>C
ENST00000494814.5:n.496G>C
NM_000197.1:c.*4G>C	NP_000188.1:n.*4G>C
XM_005251970.3:c.*4G>C	XP_005252027.1:n.*4G>C
XM_011518618.1:c.*4G>C	XP_011516920.1:n.*4G>C
XM_011518619.1:c.*4G>C	XP_011516921.1:n.*4G>C
XM_011518620.1:c.*4G>C	XP_011516922.1:n.*4G>C
NM_000197.2:c.*4G>C MANE Select	NP_000188.1:n.*4G>C
XM_011518618.2:c.*4G>C	XP_011516920.1:n.*4G>C
XM_011518619.2:c.*4G>C	XP_011516921.1:n.*4G>C
XM_017014671.1:c.*4G>C	XP_016870160.1:n.*4G>C
XM_017014672.1:c.*4G>C	XP_016870161.1:n.*4G>C
XM_017014673.2:c.*4G>C	XP_016870162.1:n.*4G>C
XM_017014674.1:c.*4G>C	XP_016870163.1:n.*4G>C
XM_017014675.1:c.*4G>C	XP_016870164.1:n.*4G>C
XM_017014677.1:c.*4G>C	XP_016870166.1:n.*4G>C
XM_024447529.1:c.*4G>C	XP_024303297.1:n.*4G>C
XR_002956778.1:n.3409G>C