Canonical Allele Identifier: CA374121529

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235463-C-A
• MyVariant Identifiers: chr9:g.98997745C>A (hg19) ; chr9:g.96235463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235463C>A , CM000671.2:g.96235463C>A	GRCh38
NC_000009.11:g.98997745C>A , CM000671.1:g.98997745C>A	GRCh37
NC_000009.10:g.98037566C>A	NCBI36
NG_008157.1:g.71690G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.780G>T	ENSP00000364411.2:p.Arg260Ser
ENST00000375263.8:c.930G>T MANE Select	ENSP00000364412.3:p.Arg310Ser
ENST00000463517.2:n.2472G>T
ENST00000464104.6:n.1868G>T
ENST00000467499.6:c.*629G>T	ENSP00000498077.1:n.*629G>T
ENST00000494814.6:n.480G>T
ENST00000643789.1:c.3222G>T
ENST00000648146.1:c.1068G>T	ENSP00000497238.1:n.1068G>T
ENST00000648332.1:c.607G>T	ENSP00000497562.1:n.607G>T
ENST00000650005.1:c.859G>T	ENSP00000498121.1:n.859G>T
ENST00000375262.3:c.780G>T	ENSP00000364411.2:p.Arg260Ser
ENST00000375263.7:c.930G>T	ENSP00000364412.3:p.Arg310Ser
ENST00000464104.5:n.783G>T
ENST00000467499.5:n.190G>T
ENST00000494814.5:n.489G>T
NM_000197.1:c.930G>T	NP_000188.1:p.Arg310Ser
XM_005251970.3:c.570G>T	XP_005252027.1:p.Arg190Ser
XM_011518618.1:c.930G>T	XP_011516920.1:p.Arg310Ser
XM_011518619.1:c.930G>T	XP_011516921.1:p.Arg310Ser
XM_011518620.1:c.822G>T	XP_011516922.1:p.Arg274Ser
NM_000197.2:c.930G>T MANE Select	NP_000188.1:p.Arg310Ser
XM_011518618.2:c.930G>T	XP_011516920.1:p.Arg310Ser
XM_011518619.2:c.930G>T	XP_011516921.1:p.Arg310Ser
XM_017014671.1:c.930G>T	XP_016870160.1:p.Arg310Ser
XM_017014672.1:c.930G>T	XP_016870161.1:p.Arg310Ser
XM_017014673.2:c.894G>T	XP_016870162.1:p.Arg298Ser
XM_017014674.1:c.822G>T	XP_016870163.1:p.Arg274Ser
XM_017014675.1:c.768G>T	XP_016870164.1:p.Arg256Ser
XM_017014677.1:c.570G>T	XP_016870166.1:p.Arg190Ser
XM_024447529.1:c.768G>T	XP_024303297.1:p.Arg256Ser
XR_002956778.1:n.3402G>T