Canonical Allele Identifier: CA374123404

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2702594
• ClinVar RCV Id: RCV003577427
• MyVariant Identifiers: chr9:g.99006610C>A (hg19) ; chr9:g.96244328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244328C>A , CM000671.2:g.96244328C>A	GRCh38
NC_000009.11:g.99006610C>A , CM000671.1:g.99006610C>A	GRCh37
NC_000009.10:g.98046431C>A	NCBI36
NG_008157.1:g.62825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672+1G>T	ENSP00000364411.2:n.672+1G>T
ENST00000375263.8:c.672+1G>T MANE Select	ENSP00000364412.3:n.672+1G>T
ENST00000463517.2:n.2214+1G>T
ENST00000464104.6:n.1610+1G>T
ENST00000467499.6:c.*371+1G>T	ENSP00000498077.1:n.*371+1G>T
ENST00000484816.2:n.23+1G>T
ENST00000494814.6:n.185G>T
ENST00000643789.1:c.2964+1G>T
ENST00000648146.1:c.672+1G>T	ENSP00000497238.1:n.672+1G>T
ENST00000648332.1:c.349+1G>T	ENSP00000497562.1:n.349+1G>T
ENST00000648799.1:c.564+1G>T	ENSP00000498039.1:n.564+1G>T
ENST00000650005.1:c.601+1G>T	ENSP00000498121.1:n.601+1G>T
ENST00000375262.3:c.672+1G>T	ENSP00000364411.2:n.672+1G>T
ENST00000375263.7:c.672+1G>T	ENSP00000364412.3:n.672+1G>T
ENST00000464104.5:n.525+1G>T
ENST00000484816.1:n.22+1G>T
ENST00000494814.5:n.194G>T
NM_000197.1:c.672+1G>T	NP_000188.1:n.672+1G>T
XM_005251970.3:c.312+1G>T	XP_005252027.1:n.312+1G>T
XM_011518618.1:c.672+1G>T	XP_011516920.1:n.672+1G>T
XM_011518619.1:c.672+1G>T	XP_011516921.1:n.672+1G>T
XM_011518620.1:c.564+1G>T	XP_011516922.1:n.564+1G>T
XM_011518621.1:c.673G>T	XP_011516923.1:p.Val225Leu
NM_000197.2:c.672+1G>T MANE Select	NP_000188.1:n.672+1G>T
XM_011518618.2:c.672+1G>T	XP_011516920.1:n.672+1G>T
XM_011518619.2:c.672+1G>T	XP_011516921.1:n.672+1G>T
XM_017014671.1:c.672+1G>T	XP_016870160.1:n.672+1G>T
XM_017014672.1:c.672+1G>T	XP_016870161.1:n.672+1G>T
XM_017014673.2:c.636+1G>T	XP_016870162.1:n.636+1G>T
XM_017014674.1:c.564+1G>T	XP_016870163.1:n.564+1G>T
XM_017014675.1:c.510+1G>T	XP_016870164.1:n.510+1G>T
XM_017014677.1:c.312+1G>T	XP_016870166.1:n.312+1G>T
XM_024447529.1:c.510+1G>T	XP_024303297.1:n.510+1G>T
XR_002956778.1:n.3107G>T