Canonical Allele Identifier: CA2277047783
Gene: DNAH17 HGNC NCBI

Linked Data

dbSNP Id: rs2092278018

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78566983C>T , CM000679.2:g.78566983C>T GRCh38
NC_000017.10:g.76563065C>T , CM000679.1:g.76563065C>T GRCh37
NC_000017.9:g.74074660C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389840.7:c.1452+16G>A MANE Select ENSP00000374490.6:n.1452+16G>A
ENST00000389840.6:c.1452+16G>A ENSP00000374490.6:n.1452+16G>A
ENST00000585328.5:c.1452+16G>A ENSP00000465516.1:n.1452+16G>A
ENST00000589793.1:n.664+16G>A
NM_173628.3:c.1452+16G>A NP_775899.3:n.1452+16G>A
XM_011525416.1:c.1452+16G>A XP_011523718.1:n.1452+16G>A
XM_011525417.1:c.1452+16G>A XP_011523719.1:n.1452+16G>A
XR_934583.1:n.1613+16G>A
XM_011525416.2:c.1452+16G>A XP_011523718.1:n.1452+16G>A
XM_024451013.1:c.1452+16G>A XP_024306781.1:n.1452+16G>A
XM_024451014.1:c.1452+16G>A XP_024306782.1:n.1452+16G>A
XR_002958080.1:n.1615+16G>A
XR_002958081.1:n.1619+16G>A
NM_173628.4:c.1452+16G>A MANE Select NP_775899.3:n.1452+16G>A