Canonical Allele Identifier: CA3202508

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 578839
• ClinVar RCV Id: RCV000701966
• dbSNP Id: rs753913853
• ExAC: 5:13770874 G / A
• gnomAD v2: 5-13770874-G-A
• gnomAD v3: 5-13770765-G-A
• gnomAD v4: 5-13770765-G-A
• COSMIC: COSM70489
• MyVariant Identifiers: chr5:g.13770874G>A (hg19) ; chr5:g.13770765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770765G>A , CM000667.2:g.13770765G>A	GRCh38
NC_000005.9:g.13770874G>A , CM000667.1:g.13770874G>A	GRCh37
NC_000005.8:g.13823874G>A	NCBI36
NG_013081.1:g.178716C>T
NG_013081.2:g.178716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9589C>T MANE Select	ENSP00000265104.4:p.Arg3197Trp
ENST00000681290.1:c.9544C>T	ENSP00000505288.1:p.Arg3182Trp
ENST00000265104.4:c.9589C>T	ENSP00000265104.4:p.Arg3197Trp
ENST00000504001.3:n.301C>T
NM_001369.2:c.9589C>T	NP_001360.1:p.Arg3197Trp
XM_005248262.2:c.9544C>T	XP_005248319.1:p.Arg3182Trp
XM_005248262.3:c.9697C>T	XP_005248319.2:p.Arg3233Trp
XM_017009177.1:c.9697C>T	XP_016864666.1:p.Arg3233Trp
XM_017009178.1:c.8602C>T	XP_016864667.1:p.Arg2868Trp
XM_017009179.2:c.8602C>T	XP_016864668.1:p.Arg2868Trp
XM_017009180.1:c.9697C>T	XP_016864669.1:p.Arg3233Trp
XM_017009181.1:c.9697C>T	XP_016864670.1:p.Arg3233Trp
XM_017009182.1:c.9697C>T	XP_016864671.1:p.Arg3233Trp
XM_017009183.1:c.9697C>T	XP_016864672.1:p.Arg3233Trp
XM_017009185.1:c.4786C>T	XP_016864674.1:p.Arg1596Trp
XM_017009186.1:c.4339C>T	XP_016864675.1:p.Arg1447Trp
XM_017009188.1:c.3676C>T	XP_016864677.1:p.Arg1226Trp
XM_024454388.1:c.8602C>T	XP_024310156.1:p.Arg2868Trp
XM_024454389.1:c.8191C>T	XP_024310157.1:p.Arg2731Trp
NM_001369.3:c.9589C>T MANE Select	NP_001360.1:p.Arg3197Trp