Canonical Allele Identifier: CA8805191

Gene: DNAH17

Linked Data

• dbSNP Id: rs748519472
• ExAC: 17:76563124 A / C
• gnomAD v2: 17-76563124-A-C
• gnomAD v4: 17-78567042-A-C
• MyVariant Identifiers: chr17:g.76563124A>C (hg19) ; chr17:g.78567042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567042A>C , CM000679.2:g.78567042A>C	GRCh38
NC_000017.10:g.76563124A>C , CM000679.1:g.76563124A>C	GRCh37
NC_000017.9:g.74074719A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1409T>G MANE Select	ENSP00000374490.6:p.Val470Gly
ENST00000389840.6:c.1409T>G	ENSP00000374490.6:p.Val470Gly
ENST00000585328.5:c.1409T>G	ENSP00000465516.1:p.Val470Gly
ENST00000589793.1:n.621T>G
NM_173628.3:c.1409T>G	NP_775899.3:p.Val470Gly
XM_011525416.1:c.1409T>G	XP_011523718.1:p.Val470Gly
XM_011525417.1:c.1409T>G	XP_011523719.1:p.Val470Gly
XR_934583.1:n.1570T>G
XM_011525416.2:c.1409T>G	XP_011523718.1:p.Val470Gly
XM_024451013.1:c.1409T>G	XP_024306781.1:p.Val470Gly
XM_024451014.1:c.1409T>G	XP_024306782.1:p.Val470Gly
XR_002958080.1:n.1572T>G
XR_002958081.1:n.1576T>G
NM_173628.4:c.1409T>G MANE Select	NP_775899.3:p.Val470Gly