Canonical Allele Identifier: CA374123342

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1345521116
• gnomAD v2: 9-99003164-G-T
• gnomAD v3: 9-96240882-G-T
• gnomAD v4: 9-96240882-G-T
• MyVariant Identifiers: chr9:g.99003164G>T (hg19) ; chr9:g.96240882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240882G>T , CM000671.2:g.96240882G>T	GRCh38
NC_000009.11:g.99003164G>T , CM000671.1:g.99003164G>T	GRCh37
NC_000009.10:g.98042985G>T	NCBI36
NG_008157.1:g.66271C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3447C>A	ENSP00000364411.2:n.672+3447C>A
ENST00000375263.8:c.698C>A MANE Select	ENSP00000364412.3:p.Thr233Asn
ENST00000463517.2:n.2240C>A
ENST00000464104.6:n.1636C>A
ENST00000467499.6:c.*397C>A	ENSP00000498077.1:n.*397C>A
ENST00000484816.2:n.49C>A
ENST00000494814.6:n.248C>A
ENST00000643789.1:c.2990C>A
ENST00000648146.1:c.698C>A	ENSP00000497238.1:p.Thr233Asn
ENST00000648332.1:c.375C>A	ENSP00000497562.1:n.375C>A
ENST00000648799.1:c.590C>A	ENSP00000498039.1:p.Thr197Asn
ENST00000650005.1:c.627C>A	ENSP00000498121.1:n.627C>A
ENST00000375262.3:c.672+3447C>A	ENSP00000364411.2:n.672+3447C>A
ENST00000375263.7:c.698C>A	ENSP00000364412.3:p.Thr233Asn
ENST00000464104.5:n.551C>A
ENST00000484816.1:n.48C>A
ENST00000494814.5:n.257C>A
NM_000197.1:c.698C>A	NP_000188.1:p.Thr233Asn
XM_005251970.3:c.338C>A	XP_005252027.1:p.Thr113Asn
XM_011518618.1:c.698C>A	XP_011516920.1:p.Thr233Asn
XM_011518619.1:c.698C>A	XP_011516921.1:p.Thr233Asn
XM_011518620.1:c.590C>A	XP_011516922.1:p.Thr197Asn
XM_011518621.1:c.*19C>A	XP_011516923.1:n.*19C>A
NM_000197.2:c.698C>A MANE Select	NP_000188.1:p.Thr233Asn
XM_011518618.2:c.698C>A	XP_011516920.1:p.Thr233Asn
XM_011518619.2:c.698C>A	XP_011516921.1:p.Thr233Asn
XM_017014671.1:c.698C>A	XP_016870160.1:p.Thr233Asn
XM_017014672.1:c.698C>A	XP_016870161.1:p.Thr233Asn
XM_017014673.2:c.662C>A	XP_016870162.1:p.Thr221Asn
XM_017014674.1:c.590C>A	XP_016870163.1:p.Thr197Asn
XM_017014675.1:c.536C>A	XP_016870164.1:p.Thr179Asn
XM_017014677.1:c.338C>A	XP_016870166.1:p.Thr113Asn
XM_024447529.1:c.536C>A	XP_024303297.1:p.Thr179Asn
XR_002956778.1:n.3170C>A