Canonical Allele Identifier: CA401286670

Gene: DNAH17

Linked Data

• COSMIC: COSM5387502 ; COSM5387503
• MyVariant Identifiers: chr17:g.76563101G>A (hg19) ; chr17:g.78567019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567019G>A , CM000679.2:g.78567019G>A	GRCh38
NC_000017.10:g.76563101G>A , CM000679.1:g.76563101G>A	GRCh37
NC_000017.9:g.74074696G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1432C>T MANE Select	ENSP00000374490.6:p.Pro478Ser
ENST00000389840.6:c.1432C>T	ENSP00000374490.6:p.Pro478Ser
ENST00000585328.5:c.1432C>T	ENSP00000465516.1:p.Pro478Ser
ENST00000589793.1:n.644C>T
NM_173628.3:c.1432C>T	NP_775899.3:p.Pro478Ser
XM_011525416.1:c.1432C>T	XP_011523718.1:p.Pro478Ser
XM_011525417.1:c.1432C>T	XP_011523719.1:p.Pro478Ser
XR_934583.1:n.1593C>T
XM_011525416.2:c.1432C>T	XP_011523718.1:p.Pro478Ser
XM_024451013.1:c.1432C>T	XP_024306781.1:p.Pro478Ser
XM_024451014.1:c.1432C>T	XP_024306782.1:p.Pro478Ser
XR_002958080.1:n.1595C>T
XR_002958081.1:n.1599C>T
NM_173628.4:c.1432C>T MANE Select	NP_775899.3:p.Pro478Ser