Canonical Allele Identifier: CA5140304

Gene: HSD17B3

Linked Data

• dbSNP Id: rs775741618
• ExAC: 9:99006586 A / G
• gnomAD v2: 9-99006586-A-G
• gnomAD v3: 9-96244304-A-G
• gnomAD v4: 9-96244304-A-G
• MyVariant Identifiers: chr9:g.99006586A>G (hg19) ; chr9:g.96244304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244304A>G , CM000671.2:g.96244304A>G	GRCh38
NC_000009.11:g.99006586A>G , CM000671.1:g.99006586A>G	GRCh37
NC_000009.10:g.98046407A>G	NCBI36
NG_008157.1:g.62849T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+25T>C	ENSP00000364411.2:n.672+25T>C
ENST00000375263.8:c.672+25T>C MANE Select	ENSP00000364412.3:n.672+25T>C
ENST00000463517.2:n.2214+25T>C
ENST00000464104.6:n.1610+25T>C
ENST00000467499.6:c.*371+25T>C	ENSP00000498077.1:n.*371+25T>C
ENST00000484816.2:n.23+25T>C
ENST00000494814.6:n.209T>C
ENST00000643789.1:c.2964+25T>C
ENST00000648146.1:c.672+25T>C	ENSP00000497238.1:n.672+25T>C
ENST00000648332.1:c.349+25T>C	ENSP00000497562.1:n.349+25T>C
ENST00000648799.1:c.564+25T>C	ENSP00000498039.1:n.564+25T>C
ENST00000650005.1:c.601+25T>C	ENSP00000498121.1:n.601+25T>C
ENST00000375262.3:c.672+25T>C	ENSP00000364411.2:n.672+25T>C
ENST00000375263.7:c.672+25T>C	ENSP00000364412.3:n.672+25T>C
ENST00000464104.5:n.525+25T>C
ENST00000484816.1:n.22+25T>C
ENST00000494814.5:n.218T>C
NM_000197.1:c.672+25T>C	NP_000188.1:n.672+25T>C
XM_005251970.3:c.312+25T>C	XP_005252027.1:n.312+25T>C
XM_011518618.1:c.672+25T>C	XP_011516920.1:n.672+25T>C
XM_011518619.1:c.672+25T>C	XP_011516921.1:n.672+25T>C
XM_011518620.1:c.564+25T>C	XP_011516922.1:n.564+25T>C
XM_011518621.1:c.697T>C	XP_011516923.1:p.Leu233=
NM_000197.2:c.672+25T>C MANE Select	NP_000188.1:n.672+25T>C
XM_011518618.2:c.672+25T>C	XP_011516920.1:n.672+25T>C
XM_011518619.2:c.672+25T>C	XP_011516921.1:n.672+25T>C
XM_017014671.1:c.672+25T>C	XP_016870160.1:n.672+25T>C
XM_017014672.1:c.672+25T>C	XP_016870161.1:n.672+25T>C
XM_017014673.2:c.636+25T>C	XP_016870162.1:n.636+25T>C
XM_017014674.1:c.564+25T>C	XP_016870163.1:n.564+25T>C
XM_017014675.1:c.510+25T>C	XP_016870164.1:n.510+25T>C
XM_017014677.1:c.312+25T>C	XP_016870166.1:n.312+25T>C
XM_024447529.1:c.510+25T>C	XP_024303297.1:n.510+25T>C
XR_002956778.1:n.3131T>C