Canonical Allele Identifier: CA2038564512
Community Standard Title: NM_003725.4(HSD17B6):c.313+3567T=
Gene: HSD17B6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56777732T= , CM000674.2:g.56777732T= GRCh38
NC_000012.11:g.57171516T= , CM000674.1:g.57171516T= GRCh37
NC_000012.10:g.55457783T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003725.4:c.313+3567T= MANE Select NP_003716.2:n.313+3567T=
ENST00000322165.1:c.313+3567T= MANE Select ENSP00000318631.1:n.313+3567T=
NM_003725.3:c.313+3567T= NP_003716.2:n.313+3567T=
ENST00000554150.5:c.313+3567T= ENSP00000452273.1:n.313+3567T=
ENST00000554643.5:c.313+3567T= ENSP00000451406.1:n.313+3567T=
ENST00000555159.5:c.313+3567T= ENSP00000450698.1:n.313+3567T=
ENST00000555805.5:c.313+3567T= ENSP00000451753.1:n.313+3567T=
XM_005269207.1:c.313+3567T= XP_005269264.1:n.313+3567T=
XM_005269208.1:c.313+3567T= XP_005269265.1:n.313+3567T=
XM_005269209.1:c.313+3567T= XP_005269266.1:n.313+3567T=
XM_006719672.1:c.313+3567T= XP_006719735.1:n.313+3567T=
XM_011538925.1:c.313+3567T= XP_011537227.1:n.313+3567T=
XM_011538926.1:c.313+3567T= XP_011537228.1:n.313+3567T=
XM_011538927.1:c.313+3567T= XP_011537229.1:n.313+3567T=
XM_024449249.1:c.313+3567T= XP_024305017.1:n.313+3567T=
XM_024449250.1:c.313+3567T= XP_024305018.1:n.313+3567T=
XM_024449251.1:c.313+3567T= XP_024305019.1:n.313+3567T=
XR_245961.1:n.678+3567T=