Canonical Allele Identifier: CA374123408

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006611C>G (hg19) ; chr9:g.96244329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244329C>G , CM000671.2:g.96244329C>G	GRCh38
NC_000009.11:g.99006611C>G , CM000671.1:g.99006611C>G	GRCh37
NC_000009.10:g.98046432C>G	NCBI36
NG_008157.1:g.62824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672G>C	ENSP00000364411.2:p.Gln224His
ENST00000375263.8:c.672G>C MANE Select	ENSP00000364412.3:p.Gln224His
ENST00000463517.2:n.2214G>C
ENST00000464104.6:n.1610G>C
ENST00000467499.6:c.*371G>C	ENSP00000498077.1:n.*371G>C
ENST00000484816.2:n.23G>C
ENST00000494814.6:n.184G>C
ENST00000643789.1:c.2964G>C
ENST00000648146.1:c.672G>C	ENSP00000497238.1:p.Gln224His
ENST00000648332.1:c.349G>C	ENSP00000497562.1:n.349G>C
ENST00000648799.1:c.564G>C	ENSP00000498039.1:p.Gln188His
ENST00000650005.1:c.601G>C	ENSP00000498121.1:n.601G>C
ENST00000375262.3:c.672G>C	ENSP00000364411.2:p.Gln224His
ENST00000375263.7:c.672G>C	ENSP00000364412.3:p.Gln224His
ENST00000464104.5:n.525G>C
ENST00000484816.1:n.22G>C
ENST00000494814.5:n.193G>C
NM_000197.1:c.672G>C	NP_000188.1:p.Gln224His
XM_005251970.3:c.312G>C	XP_005252027.1:p.Gln104His
XM_011518618.1:c.672G>C	XP_011516920.1:p.Gln224His
XM_011518619.1:c.672G>C	XP_011516921.1:p.Gln224His
XM_011518620.1:c.564G>C	XP_011516922.1:p.Gln188His
XM_011518621.1:c.672G>C	XP_011516923.1:p.Gln224His
NM_000197.2:c.672G>C MANE Select	NP_000188.1:p.Gln224His
XM_011518618.2:c.672G>C	XP_011516920.1:p.Gln224His
XM_011518619.2:c.672G>C	XP_011516921.1:p.Gln224His
XM_017014671.1:c.672G>C	XP_016870160.1:p.Gln224His
XM_017014672.1:c.672G>C	XP_016870161.1:p.Gln224His
XM_017014673.2:c.636G>C	XP_016870162.1:p.Gln212His
XM_017014674.1:c.564G>C	XP_016870163.1:p.Gln188His
XM_017014675.1:c.510G>C	XP_016870164.1:p.Gln170His
XM_017014677.1:c.312G>C	XP_016870166.1:p.Gln104His
XM_024447529.1:c.510G>C	XP_024303297.1:p.Gln170His
XR_002956778.1:n.3106G>C