Canonical Allele Identifier: CA196617004

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2998382
• ClinVar RCV Id: RCV003857045
• dbSNP Id: rs907455179
• gnomAD v3: 9-96244398-G-A
• gnomAD v4: 9-96244398-G-A
• MyVariant Identifiers: chr9:g.99006680G>A (hg19) ; chr9:g.96244398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244398G>A , CM000671.2:g.96244398G>A	GRCh38
NC_000009.11:g.99006680G>A , CM000671.1:g.99006680G>A	GRCh37
NC_000009.10:g.98046501G>A	NCBI36
NG_008157.1:g.62755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.607-4C>T	ENSP00000364411.2:n.607-4C>T
ENST00000375263.8:c.607-4C>T MANE Select	ENSP00000364412.3:n.607-4C>T
ENST00000463517.2:n.2145C>T
ENST00000464104.6:n.1545-4C>T
ENST00000467499.6:c.*306-4C>T	ENSP00000498077.1:n.*306-4C>T
ENST00000494814.6:n.119-4C>T
ENST00000643789.1:c.2899-4C>T
ENST00000648146.1:c.607-4C>T	ENSP00000497238.1:n.607-4C>T
ENST00000648332.1:c.284-4C>T	ENSP00000497562.1:n.284-4C>T
ENST00000648799.1:c.499-4C>T	ENSP00000498039.1:n.499-4C>T
ENST00000650005.1:c.536-4C>T	ENSP00000498121.1:n.536-4C>T
ENST00000375262.3:c.607-4C>T	ENSP00000364411.2:n.607-4C>T
ENST00000375263.7:c.607-4C>T	ENSP00000364412.3:n.607-4C>T
ENST00000464104.5:n.460-4C>T
ENST00000494814.5:n.128-4C>T
NM_000197.1:c.607-4C>T	NP_000188.1:n.607-4C>T
XM_005251970.3:c.247-4C>T	XP_005252027.1:n.247-4C>T
XM_011518618.1:c.607-4C>T	XP_011516920.1:n.607-4C>T
XM_011518619.1:c.607-4C>T	XP_011516921.1:n.607-4C>T
XM_011518620.1:c.499-4C>T	XP_011516922.1:n.499-4C>T
XM_011518621.1:c.607-4C>T	XP_011516923.1:n.607-4C>T
NM_000197.2:c.607-4C>T MANE Select	NP_000188.1:n.607-4C>T
XM_011518618.2:c.607-4C>T	XP_011516920.1:n.607-4C>T
XM_011518619.2:c.607-4C>T	XP_011516921.1:n.607-4C>T
XM_017014671.1:c.607-4C>T	XP_016870160.1:n.607-4C>T
XM_017014672.1:c.607-4C>T	XP_016870161.1:n.607-4C>T
XM_017014673.2:c.571-4C>T	XP_016870162.1:n.571-4C>T
XM_017014674.1:c.499-4C>T	XP_016870163.1:n.499-4C>T
XM_017014675.1:c.445-4C>T	XP_016870164.1:n.445-4C>T
XM_017014677.1:c.247-4C>T	XP_016870166.1:n.247-4C>T
XM_024447529.1:c.445-4C>T	XP_024303297.1:n.445-4C>T
XR_002956778.1:n.3041-4C>T