Canonical Allele Identifier: CA239818

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 194035
• ClinVar RCV Id: RCV000174297 ; RCV000463597
• dbSNP Id: rs200452908
• ExAC: 5:13911554 G / A
• gnomAD v2: 5-13911554-G-A
• gnomAD v3: 5-13911445-G-A
• gnomAD v4: 5-13911445-G-A
• COSMIC: COSM145327
• MyVariant Identifiers: chr5:g.13911554G>A (hg19) ; chr5:g.13911445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911445G>A , CM000667.2:g.13911445G>A	GRCh38
NC_000005.9:g.13911554G>A , CM000667.1:g.13911554G>A	GRCh37
NC_000005.8:g.13964554G>A	NCBI36
NG_013081.1:g.38036C>T
NG_013081.2:g.38036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1641C>T
ENST00000683011.1:n.1524C>T
ENST00000683967.1:n.3950C>T
ENST00000684013.1:n.2245C>T
ENST00000684099.1:n.2241C>T
ENST00000265104.5:c.1585C>T MANE Select	ENSP00000265104.4:p.Arg529Trp
ENST00000680213.1:c.1345C>T	ENSP00000506622.1:p.Arg449Trp
ENST00000681290.1:c.1540C>T	ENSP00000505288.1:p.Arg514Trp
ENST00000265104.4:c.1585C>T	ENSP00000265104.4:p.Arg529Trp
ENST00000508040.1:n.1993C>T
NM_001369.2:c.1585C>T	NP_001360.1:p.Arg529Trp
XM_005248262.2:c.1540C>T	XP_005248319.1:p.Arg514Trp
XM_011513990.1:c.1585C>T	XP_011512292.1:p.Arg529Trp
XR_925598.1:n.1792C>T
XM_005248262.3:c.1693C>T	XP_005248319.2:p.Arg565Trp
XM_017009177.1:c.1693C>T	XP_016864666.1:p.Arg565Trp
XM_017009178.1:c.598C>T	XP_016864667.1:p.Arg200Trp
XM_017009179.2:c.598C>T	XP_016864668.1:p.Arg200Trp
XM_017009180.1:c.1693C>T	XP_016864669.1:p.Arg565Trp
XM_017009181.1:c.1693C>T	XP_016864670.1:p.Arg565Trp
XM_017009182.1:c.1693C>T	XP_016864671.1:p.Arg565Trp
XM_017009183.1:c.1693C>T	XP_016864672.1:p.Arg565Trp
XM_017009184.1:c.1693C>T	XP_016864673.1:p.Arg565Trp
XM_017009187.1:c.1693C>T	XP_016864676.1:p.Arg565Trp
XM_024454388.1:c.598C>T	XP_024310156.1:p.Arg200Trp
XM_024454389.1:c.187C>T	XP_024310157.1:p.Arg63Trp
XR_001742034.1:n.1710C>T
XR_001742035.1:n.1710C>T
NM_001369.3:c.1585C>T MANE Select	NP_001360.1:p.Arg529Trp