Canonical Allele Identifier: CA8805179

Gene: DNAH17

Linked Data

• dbSNP Id: rs146571016
• ExAC: 17:76563092 G / C
• gnomAD v2: 17-76563092-G-C
• gnomAD v3: 17-78567010-G-C
• gnomAD v4: 17-78567010-G-C
• MyVariant Identifiers: chr17:g.76563092G>C (hg19) ; chr17:g.78567010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567010G>C , CM000679.2:g.78567010G>C	GRCh38
NC_000017.10:g.76563092G>C , CM000679.1:g.76563092G>C	GRCh37
NC_000017.9:g.74074687G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1441C>G MANE Select	ENSP00000374490.6:p.Pro481Ala
ENST00000389840.6:c.1441C>G	ENSP00000374490.6:p.Pro481Ala
ENST00000585328.5:c.1441C>G	ENSP00000465516.1:p.Pro481Ala
ENST00000589793.1:n.653C>G
NM_173628.3:c.1441C>G	NP_775899.3:p.Pro481Ala
XM_011525416.1:c.1441C>G	XP_011523718.1:p.Pro481Ala
XM_011525417.1:c.1441C>G	XP_011523719.1:p.Pro481Ala
XR_934583.1:n.1602C>G
XM_011525416.2:c.1441C>G	XP_011523718.1:p.Pro481Ala
XM_024451013.1:c.1441C>G	XP_024306781.1:p.Pro481Ala
XM_024451014.1:c.1441C>G	XP_024306782.1:p.Pro481Ala
XR_002958080.1:n.1604C>G
XR_002958081.1:n.1608C>G
NM_173628.4:c.1441C>G MANE Select	NP_775899.3:p.Pro481Ala