Canonical Allele Identifier: CA374121541

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235468-C-A
• MyVariant Identifiers: chr9:g.98997750C>A (hg19) ; chr9:g.96235468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235468C>A , CM000671.2:g.96235468C>A	GRCh38
NC_000009.11:g.98997750C>A , CM000671.1:g.98997750C>A	GRCh37
NC_000009.10:g.98037571C>A	NCBI36
NG_008157.1:g.71685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.775G>T	ENSP00000364411.2:p.Val259Phe
ENST00000375263.8:c.925G>T MANE Select	ENSP00000364412.3:p.Val309Phe
ENST00000463517.2:n.2467G>T
ENST00000464104.6:n.1863G>T
ENST00000467499.6:c.*624G>T	ENSP00000498077.1:n.*624G>T
ENST00000494814.6:n.475G>T
ENST00000643789.1:c.3217G>T
ENST00000648146.1:c.1063G>T	ENSP00000497238.1:n.1063G>T
ENST00000648332.1:c.602G>T	ENSP00000497562.1:n.602G>T
ENST00000650005.1:c.854G>T	ENSP00000498121.1:n.854G>T
ENST00000375262.3:c.775G>T	ENSP00000364411.2:p.Val259Phe
ENST00000375263.7:c.925G>T	ENSP00000364412.3:p.Val309Phe
ENST00000464104.5:n.778G>T
ENST00000467499.5:n.185G>T
ENST00000494814.5:n.484G>T
NM_000197.1:c.925G>T	NP_000188.1:p.Val309Phe
XM_005251970.3:c.565G>T	XP_005252027.1:p.Val189Phe
XM_011518618.1:c.925G>T	XP_011516920.1:p.Val309Phe
XM_011518619.1:c.925G>T	XP_011516921.1:p.Val309Phe
XM_011518620.1:c.817G>T	XP_011516922.1:p.Val273Phe
NM_000197.2:c.925G>T MANE Select	NP_000188.1:p.Val309Phe
XM_011518618.2:c.925G>T	XP_011516920.1:p.Val309Phe
XM_011518619.2:c.925G>T	XP_011516921.1:p.Val309Phe
XM_017014671.1:c.925G>T	XP_016870160.1:p.Val309Phe
XM_017014672.1:c.925G>T	XP_016870161.1:p.Val309Phe
XM_017014673.2:c.889G>T	XP_016870162.1:p.Val297Phe
XM_017014674.1:c.817G>T	XP_016870163.1:p.Val273Phe
XM_017014675.1:c.763G>T	XP_016870164.1:p.Val255Phe
XM_017014677.1:c.565G>T	XP_016870166.1:p.Val189Phe
XM_024447529.1:c.763G>T	XP_024303297.1:p.Val255Phe
XR_002956778.1:n.3397G>T