Canonical Allele Identifier: CA2690815775

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235316-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235316A>G , CM000671.2:g.96235316A>G	GRCh38
NC_000009.11:g.98997598A>G , CM000671.1:g.98997598A>G	GRCh37
NC_000009.10:g.98037419A>G	NCBI36
NG_008157.1:g.71837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*144T>C MANE Select	ENSP00000364412.3:n.*144T>C
ENST00000467499.6:c.*776T>C	ENSP00000498077.1:n.*776T>C
ENST00000494814.6:n.627T>C
ENST00000375262.3:c.*144T>C	ENSP00000364411.2:n.*144T>C
ENST00000375263.7:c.*144T>C	ENSP00000364412.3:n.*144T>C
ENST00000464104.5:n.930T>C
ENST00000467499.5:n.337T>C
ENST00000494814.5:n.636T>C
NM_000197.1:c.*144T>C	NP_000188.1:n.*144T>C
XM_005251970.3:c.*144T>C	XP_005252027.1:n.*144T>C
XM_011518618.1:c.*144T>C	XP_011516920.1:n.*144T>C
XM_011518619.1:c.*144T>C	XP_011516921.1:n.*144T>C
XM_011518620.1:c.*144T>C	XP_011516922.1:n.*144T>C
NM_000197.2:c.*144T>C MANE Select	NP_000188.1:n.*144T>C
XM_011518618.2:c.*144T>C	XP_011516920.1:n.*144T>C
XM_011518619.2:c.*144T>C	XP_011516921.1:n.*144T>C
XM_017014671.1:c.*144T>C	XP_016870160.1:n.*144T>C
XM_017014672.1:c.*144T>C	XP_016870161.1:n.*144T>C
XM_017014673.2:c.*144T>C	XP_016870162.1:n.*144T>C
XM_017014674.1:c.*144T>C	XP_016870163.1:n.*144T>C
XM_017014675.1:c.*144T>C	XP_016870164.1:n.*144T>C
XM_017014677.1:c.*144T>C	XP_016870166.1:n.*144T>C
XM_024447529.1:c.*144T>C	XP_024303297.1:n.*144T>C
XR_002956778.1:n.3549T>C