Canonical Allele Identifier: CA374123433

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006619T>A (hg19) ; chr9:g.96244337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244337T>A , CM000671.2:g.96244337T>A	GRCh38
NC_000009.11:g.99006619T>A , CM000671.1:g.99006619T>A	GRCh37
NC_000009.10:g.98046440T>A	NCBI36
NG_008157.1:g.62816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.664A>T	ENSP00000364411.2:p.Ile222Phe
ENST00000375263.8:c.664A>T MANE Select	ENSP00000364412.3:p.Ile222Phe
ENST00000463517.2:n.2206A>T
ENST00000464104.6:n.1602A>T
ENST00000467499.6:c.*363A>T	ENSP00000498077.1:n.*363A>T
ENST00000484816.2:n.15A>T
ENST00000494814.6:n.176A>T
ENST00000643789.1:c.2956A>T
ENST00000648146.1:c.664A>T	ENSP00000497238.1:p.Ile222Phe
ENST00000648332.1:c.341A>T	ENSP00000497562.1:n.341A>T
ENST00000648799.1:c.556A>T	ENSP00000498039.1:p.Ile186Phe
ENST00000650005.1:c.593A>T	ENSP00000498121.1:n.593A>T
ENST00000375262.3:c.664A>T	ENSP00000364411.2:p.Ile222Phe
ENST00000375263.7:c.664A>T	ENSP00000364412.3:p.Ile222Phe
ENST00000464104.5:n.517A>T
ENST00000484816.1:n.14A>T
ENST00000494814.5:n.185A>T
NM_000197.1:c.664A>T	NP_000188.1:p.Ile222Phe
XM_005251970.3:c.304A>T	XP_005252027.1:p.Ile102Phe
XM_011518618.1:c.664A>T	XP_011516920.1:p.Ile222Phe
XM_011518619.1:c.664A>T	XP_011516921.1:p.Ile222Phe
XM_011518620.1:c.556A>T	XP_011516922.1:p.Ile186Phe
XM_011518621.1:c.664A>T	XP_011516923.1:p.Ile222Phe
NM_000197.2:c.664A>T MANE Select	NP_000188.1:p.Ile222Phe
XM_011518618.2:c.664A>T	XP_011516920.1:p.Ile222Phe
XM_011518619.2:c.664A>T	XP_011516921.1:p.Ile222Phe
XM_017014671.1:c.664A>T	XP_016870160.1:p.Ile222Phe
XM_017014672.1:c.664A>T	XP_016870161.1:p.Ile222Phe
XM_017014673.2:c.628A>T	XP_016870162.1:p.Ile210Phe
XM_017014674.1:c.556A>T	XP_016870163.1:p.Ile186Phe
XM_017014675.1:c.502A>T	XP_016870164.1:p.Ile168Phe
XM_017014677.1:c.304A>T	XP_016870166.1:p.Ile102Phe
XM_024447529.1:c.502A>T	XP_024303297.1:p.Ile168Phe
XR_002956778.1:n.3098A>T