Canonical Allele Identifier: CA12964699
Community Standard Title: NM_000197.2(HSD17B3):c.454-209G>A
Gene: HSD17B3 HGNC NCBI
HSD17B3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96249995C>T , CM000671.2:g.96249995C>T GRCh38
NC_000009.11:g.99012277C>T , CM000671.1:g.99012277C>T GRCh37
NC_000009.10:g.98052098C>T NCBI36
NG_008157.1:g.57158G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000197.2:c.454-209G>A (HSD17B3) MANE Select NP_000188.1:n.454-209G>A
ENST00000375263.8:c.454-209G>A (HSD17B3) MANE Select ENSP00000364412.3:n.454-209G>A
NM_000197.1:c.454-209G>A (HSD17B3) NP_000188.1:n.454-209G>A
NR_146524.1:n.673C>T (HSD17B3-AS1)
ENST00000375262.3:c.454-209G>A (HSD17B3) ENSP00000364411.2:n.454-209G>A
ENST00000375262.4:c.454-209G>A (HSD17B3) ENSP00000364411.2:n.454-209G>A
ENST00000375263.7:c.454-209G>A (HSD17B3) ENSP00000364412.3:n.454-209G>A
ENST00000463517.2:n.1888G>A
ENST00000464104.5:n.221G>A (HSD17B3)
ENST00000464104.6:n.1306G>A
ENST00000467499.6:c.*153-209G>A (HSD17B3) ENSP00000498077.1:n.*153-209G>A
ENST00000643789.1:c.2746-209G>A
ENST00000648146.1:c.454-209G>A (HSD17B3) ENSP00000497238.1:n.454-209G>A
ENST00000648332.1:c.202-4569G>A (HSD17B3) ENSP00000497562.1:n.202-4569G>A
ENST00000648799.1:c.346-209G>A (HSD17B3) ENSP00000498039.1:n.346-209G>A
ENST00000650005.1:c.453+1423G>A (HSD17B3) ENSP00000498121.1:n.453+1423G>A
ENST00000650386.1:c.*470G>A (HSD17B3) ENSP00000497464.1:n.*470G>A
XM_005251970.3:c.8G>A (HSD17B3) XP_005252027.1:p.Trp3Ter
XM_011518618.1:c.454-209G>A (HSD17B3) XP_011516920.1:n.454-209G>A
XM_011518618.2:c.454-209G>A (HSD17B3) XP_011516920.1:n.454-209G>A
XM_011518619.1:c.454-209G>A (HSD17B3) XP_011516921.1:n.454-209G>A
XM_011518619.2:c.454-209G>A (HSD17B3) XP_011516921.1:n.454-209G>A
XM_011518620.1:c.346-209G>A (HSD17B3) XP_011516922.1:n.346-209G>A
XM_011518621.1:c.454-209G>A (HSD17B3) XP_011516923.1:n.454-209G>A
XM_017014671.1:c.454-209G>A (HSD17B3) XP_016870160.1:n.454-209G>A
XM_017014672.1:c.454-209G>A (HSD17B3) XP_016870161.1:n.454-209G>A
XM_017014673.2:c.453+1423G>A (HSD17B3) XP_016870162.1:n.453+1423G>A
XM_017014674.1:c.346-209G>A (HSD17B3) XP_016870163.1:n.346-209G>A
XM_017014675.1:c.292-209G>A (HSD17B3) XP_016870164.1:n.292-209G>A
XM_017014677.1:c.8G>A (HSD17B3) XP_016870166.1:p.Trp3Ter
XM_024447529.1:c.292-209G>A (HSD17B3) XP_024303297.1:n.292-209G>A
XR_002956778.1:n.2888-209G>A (HSD17B3)
XR_930147.1:n.1288+2660C>T (HSD17B3-AS1)
XR_930148.1:n.1288+2660C>T (HSD17B3-AS1)