Canonical Allele Identifier: CA3204697

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1396647
• ClinVar RCV Id: RCV001903094 ; RCV002284499
• dbSNP Id: rs374086061
• ExAC: 5:13901374 G / A
• gnomAD v2: 5-13901374-G-A
• gnomAD v3: 5-13901265-G-A
• gnomAD v4: 5-13901265-G-A
• COSMIC: COSM3238115
• MyVariant Identifiers: chr5:g.13901374G>A (hg19) ; chr5:g.13901265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901265G>A , CM000667.2:g.13901265G>A	GRCh38
NC_000005.9:g.13901374G>A , CM000667.1:g.13901374G>A	GRCh37
NC_000005.8:g.13954374G>A	NCBI36
NG_013081.1:g.48216C>T
NG_013081.2:g.48216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2039C>T MANE Select	ENSP00000265104.4:p.Ala680Val
ENST00000681290.1:c.1994C>T	ENSP00000505288.1:p.Ala665Val
ENST00000265104.4:c.2039C>T	ENSP00000265104.4:p.Ala680Val
NM_001369.2:c.2039C>T	NP_001360.1:p.Ala680Val
XM_005248262.2:c.1994C>T	XP_005248319.1:p.Ala665Val
XM_011513990.1:c.2039C>T	XP_011512292.1:p.Ala680Val
XR_925598.1:n.2246C>T
XM_005248262.3:c.2147C>T	XP_005248319.2:p.Ala716Val
XM_017009177.1:c.2147C>T	XP_016864666.1:p.Ala716Val
XM_017009178.1:c.1052C>T	XP_016864667.1:p.Ala351Val
XM_017009179.2:c.1052C>T	XP_016864668.1:p.Ala351Val
XM_017009180.1:c.2147C>T	XP_016864669.1:p.Ala716Val
XM_017009181.1:c.2147C>T	XP_016864670.1:p.Ala716Val
XM_017009182.1:c.2147C>T	XP_016864671.1:p.Ala716Val
XM_017009183.1:c.2147C>T	XP_016864672.1:p.Ala716Val
XM_017009184.1:c.2147C>T	XP_016864673.1:p.Ala716Val
XM_017009187.1:c.2147C>T	XP_016864676.1:p.Ala716Val
XM_024454388.1:c.1052C>T	XP_024310156.1:p.Ala351Val
XM_024454389.1:c.641C>T	XP_024310157.1:p.Ala214Val
XR_001742034.1:n.2164C>T
XR_001742035.1:n.2164C>T
NM_001369.3:c.2039C>T MANE Select	NP_001360.1:p.Ala680Val