Canonical Allele Identifier: CA466130846

Gene: HSD17B3

Linked Data

• dbSNP Id: rs375855473
• gnomAD v2: 9-99003166-C-G
• gnomAD v4: 9-96240884-C-G
• MyVariant Identifiers: chr9:g.99003166C>G (hg19) ; chr9:g.96240884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240884C>G , CM000671.2:g.96240884C>G	GRCh38
NC_000009.11:g.99003166C>G , CM000671.1:g.99003166C>G	GRCh37
NC_000009.10:g.98042987C>G	NCBI36
NG_008157.1:g.66269G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3445G>C	ENSP00000364411.2:n.672+3445G>C
ENST00000375263.8:c.696G>C MANE Select	ENSP00000364412.3:p.Ser232=
ENST00000463517.2:n.2238G>C
ENST00000464104.6:n.1634G>C
ENST00000467499.6:c.*395G>C	ENSP00000498077.1:n.*395G>C
ENST00000484816.2:n.47G>C
ENST00000494814.6:n.246G>C
ENST00000643789.1:c.2988G>C
ENST00000648146.1:c.696G>C	ENSP00000497238.1:p.Ser232=
ENST00000648332.1:c.373G>C	ENSP00000497562.1:n.373G>C
ENST00000648799.1:c.588G>C	ENSP00000498039.1:p.Ser196=
ENST00000650005.1:c.625G>C	ENSP00000498121.1:n.625G>C
ENST00000375262.3:c.672+3445G>C	ENSP00000364411.2:n.672+3445G>C
ENST00000375263.7:c.696G>C	ENSP00000364412.3:p.Ser232=
ENST00000464104.5:n.549G>C
ENST00000484816.1:n.46G>C
ENST00000494814.5:n.255G>C
NM_000197.1:c.696G>C	NP_000188.1:p.Ser232=
XM_005251970.3:c.336G>C	XP_005252027.1:p.Ser112=
XM_011518618.1:c.696G>C	XP_011516920.1:p.Ser232=
XM_011518619.1:c.696G>C	XP_011516921.1:p.Ser232=
XM_011518620.1:c.588G>C	XP_011516922.1:p.Ser196=
XM_011518621.1:c.*17G>C	XP_011516923.1:n.*17G>C
NM_000197.2:c.696G>C MANE Select	NP_000188.1:p.Ser232=
XM_011518618.2:c.696G>C	XP_011516920.1:p.Ser232=
XM_011518619.2:c.696G>C	XP_011516921.1:p.Ser232=
XM_017014671.1:c.696G>C	XP_016870160.1:p.Ser232=
XM_017014672.1:c.696G>C	XP_016870161.1:p.Ser232=
XM_017014673.2:c.660G>C	XP_016870162.1:p.Ser220=
XM_017014674.1:c.588G>C	XP_016870163.1:p.Ser196=
XM_017014675.1:c.534G>C	XP_016870164.1:p.Ser178=
XM_017014677.1:c.336G>C	XP_016870166.1:p.Ser112=
XM_024447529.1:c.534G>C	XP_024303297.1:p.Ser178=
XR_002956778.1:n.3168G>C