Canonical Allele Identifier: CA466129470

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235466-G-A
• MyVariant Identifiers: chr9:g.98997748G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235466G>A , CM000671.2:g.96235466G>A	GRCh38
NC_000009.11:g.98997748G>A , CM000671.1:g.98997748G>A	GRCh37
NC_000009.10:g.98037569G>A	NCBI36
NG_008157.1:g.71687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.777C>T	ENSP00000364411.2:p.Val259=
ENST00000375263.8:c.927C>T MANE Select	ENSP00000364412.3:p.Val309=
ENST00000463517.2:n.2469C>T
ENST00000464104.6:n.1865C>T
ENST00000467499.6:c.*626C>T	ENSP00000498077.1:n.*626C>T
ENST00000494814.6:n.477C>T
ENST00000643789.1:c.3219C>T
ENST00000648146.1:c.1065C>T	ENSP00000497238.1:n.1065C>T
ENST00000648332.1:c.604C>T	ENSP00000497562.1:n.604C>T
ENST00000650005.1:c.856C>T	ENSP00000498121.1:n.856C>T
ENST00000375262.3:c.777C>T	ENSP00000364411.2:p.Val259=
ENST00000375263.7:c.927C>T	ENSP00000364412.3:p.Val309=
ENST00000464104.5:n.780C>T
ENST00000467499.5:n.187C>T
ENST00000494814.5:n.486C>T
NM_000197.1:c.927C>T	NP_000188.1:p.Val309=
XM_005251970.3:c.567C>T	XP_005252027.1:p.Val189=
XM_011518618.1:c.927C>T	XP_011516920.1:p.Val309=
XM_011518619.1:c.927C>T	XP_011516921.1:p.Val309=
XM_011518620.1:c.819C>T	XP_011516922.1:p.Val273=
NM_000197.2:c.927C>T MANE Select	NP_000188.1:p.Val309=
XM_011518618.2:c.927C>T	XP_011516920.1:p.Val309=
XM_011518619.2:c.927C>T	XP_011516921.1:p.Val309=
XM_017014671.1:c.927C>T	XP_016870160.1:p.Val309=
XM_017014672.1:c.927C>T	XP_016870161.1:p.Val309=
XM_017014673.2:c.891C>T	XP_016870162.1:p.Val297=
XM_017014674.1:c.819C>T	XP_016870163.1:p.Val273=
XM_017014675.1:c.765C>T	XP_016870164.1:p.Val255=
XM_017014677.1:c.567C>T	XP_016870166.1:p.Val189=
XM_024447529.1:c.765C>T	XP_024303297.1:p.Val255=
XR_002956778.1:n.3399C>T