Canonical Allele Identifier: CA401286875

Gene: DNAH17

Linked Data

• MyVariant Identifiers: chr17:g.76563143C>G (hg19) ; chr17:g.78567061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567061C>G , CM000679.2:g.78567061C>G	GRCh38
NC_000017.10:g.76563143C>G , CM000679.1:g.76563143C>G	GRCh37
NC_000017.9:g.74074738C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000389840.7:c.1390G>C MANE Select	ENSP00000374490.6:p.Val464Leu
ENST00000389840.6:c.1390G>C	ENSP00000374490.6:p.Val464Leu
ENST00000585328.5:c.1390G>C	ENSP00000465516.1:p.Val464Leu
ENST00000589793.1:n.602G>C
NM_173628.3:c.1390G>C	NP_775899.3:p.Val464Leu
XM_011525416.1:c.1390G>C	XP_011523718.1:p.Val464Leu
XM_011525417.1:c.1390G>C	XP_011523719.1:p.Val464Leu
XR_934583.1:n.1551G>C
XM_011525416.2:c.1390G>C	XP_011523718.1:p.Val464Leu
XM_024451013.1:c.1390G>C	XP_024306781.1:p.Val464Leu
XM_024451014.1:c.1390G>C	XP_024306782.1:p.Val464Leu
XR_002958080.1:n.1553G>C
XR_002958081.1:n.1557G>C
NM_173628.4:c.1390G>C MANE Select	NP_775899.3:p.Val464Leu