Canonical Allele Identifier: CA374121578

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235477-T-G
• MyVariant Identifiers: chr9:g.98997759T>G (hg19) ; chr9:g.96235477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235477T>G , CM000671.2:g.96235477T>G	GRCh38
NC_000009.11:g.98997759T>G , CM000671.1:g.98997759T>G	GRCh37
NC_000009.10:g.98037580T>G	NCBI36
NG_008157.1:g.71676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.766A>C	ENSP00000364411.2:p.Asn256His
ENST00000375263.8:c.916A>C MANE Select	ENSP00000364412.3:p.Asn306His
ENST00000463517.2:n.2458A>C
ENST00000464104.6:n.1854A>C
ENST00000467499.6:c.*615A>C	ENSP00000498077.1:n.*615A>C
ENST00000494814.6:n.466A>C
ENST00000643789.1:c.3208A>C
ENST00000648146.1:c.1054A>C	ENSP00000497238.1:n.1054A>C
ENST00000648332.1:c.593A>C	ENSP00000497562.1:n.593A>C
ENST00000650005.1:c.845A>C	ENSP00000498121.1:n.845A>C
ENST00000375262.3:c.766A>C	ENSP00000364411.2:p.Asn256His
ENST00000375263.7:c.916A>C	ENSP00000364412.3:p.Asn306His
ENST00000464104.5:n.769A>C
ENST00000467499.5:n.176A>C
ENST00000494814.5:n.475A>C
NM_000197.1:c.916A>C	NP_000188.1:p.Asn306His
XM_005251970.3:c.556A>C	XP_005252027.1:p.Asn186His
XM_011518618.1:c.916A>C	XP_011516920.1:p.Asn306His
XM_011518619.1:c.916A>C	XP_011516921.1:p.Asn306His
XM_011518620.1:c.808A>C	XP_011516922.1:p.Asn270His
NM_000197.2:c.916A>C MANE Select	NP_000188.1:p.Asn306His
XM_011518618.2:c.916A>C	XP_011516920.1:p.Asn306His
XM_011518619.2:c.916A>C	XP_011516921.1:p.Asn306His
XM_017014671.1:c.916A>C	XP_016870160.1:p.Asn306His
XM_017014672.1:c.916A>C	XP_016870161.1:p.Asn306His
XM_017014673.2:c.880A>C	XP_016870162.1:p.Asn294His
XM_017014674.1:c.808A>C	XP_016870163.1:p.Asn270His
XM_017014675.1:c.754A>C	XP_016870164.1:p.Asn252His
XM_017014677.1:c.556A>C	XP_016870166.1:p.Asn186His
XM_024447529.1:c.754A>C	XP_024303297.1:p.Asn252His
XR_002956778.1:n.3388A>C