Canonical Allele Identifier: CA2690816541
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96244227-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244227A>G , CM000671.2:g.96244227A>G GRCh38
NC_000009.11:g.99006509A>G , CM000671.1:g.99006509A>G GRCh37
NC_000009.10:g.98046330A>G NCBI36
NG_008157.1:g.62926T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.672+102T>C ENSP00000364411.2:n.672+102T>C
ENST00000375263.8:c.672+102T>C MANE Select ENSP00000364412.3:n.672+102T>C
ENST00000463517.2:n.2214+102T>C
ENST00000464104.6:n.1610+102T>C
ENST00000467499.6:c.*371+102T>C ENSP00000498077.1:n.*371+102T>C
ENST00000484816.2:n.23+102T>C
ENST00000494814.6:n.222+64T>C
ENST00000643789.1:c.2964+102T>C
ENST00000648146.1:c.672+102T>C ENSP00000497238.1:n.672+102T>C
ENST00000648332.1:c.349+102T>C ENSP00000497562.1:n.349+102T>C
ENST00000648799.1:c.564+102T>C ENSP00000498039.1:n.564+102T>C
ENST00000650005.1:c.601+102T>C ENSP00000498121.1:n.601+102T>C
ENST00000375262.3:c.672+102T>C ENSP00000364411.2:n.672+102T>C
ENST00000375263.7:c.672+102T>C ENSP00000364412.3:n.672+102T>C
ENST00000464104.5:n.525+102T>C
ENST00000484816.1:n.22+102T>C
ENST00000494814.5:n.231+64T>C
NM_000197.1:c.672+102T>C NP_000188.1:n.672+102T>C
XM_005251970.3:c.312+102T>C XP_005252027.1:n.312+102T>C
XM_011518618.1:c.672+102T>C XP_011516920.1:n.672+102T>C
XM_011518619.1:c.672+102T>C XP_011516921.1:n.672+102T>C
XM_011518620.1:c.564+102T>C XP_011516922.1:n.564+102T>C
XM_011518621.1:c.710+64T>C XP_011516923.1:n.710+64T>C
NM_000197.2:c.672+102T>C MANE Select NP_000188.1:n.672+102T>C
XM_011518618.2:c.672+102T>C XP_011516920.1:n.672+102T>C
XM_011518619.2:c.672+102T>C XP_011516921.1:n.672+102T>C
XM_017014671.1:c.672+102T>C XP_016870160.1:n.672+102T>C
XM_017014672.1:c.672+102T>C XP_016870161.1:n.672+102T>C
XM_017014673.2:c.636+102T>C XP_016870162.1:n.636+102T>C
XM_017014674.1:c.564+102T>C XP_016870163.1:n.564+102T>C
XM_017014675.1:c.510+102T>C XP_016870164.1:n.510+102T>C
XM_017014677.1:c.312+102T>C XP_016870166.1:n.312+102T>C
XM_024447529.1:c.510+102T>C XP_024303297.1:n.510+102T>C
XR_002956778.1:n.3144+64T>C