Canonical Allele Identifier: CA10622783

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351215
• ClinVar RCV Id: RCV000267248 ; RCV003650575
• dbSNP Id: rs886060015
• gnomAD v4: 5-13916461-A-G
• MyVariant Identifiers: chr5:g.13916570A>G (hg19) ; chr5:g.13916461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916461A>G , CM000667.2:g.13916461A>G	GRCh38
NC_000005.9:g.13916570A>G , CM000667.1:g.13916570A>G	GRCh37
NC_000005.8:g.13969570A>G	NCBI36
NG_013081.1:g.33020T>C
NG_013081.2:g.33020T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1146-6T>C
ENST00000682376.1:n.3053-6T>C
ENST00000683011.1:n.1029-6T>C
ENST00000683967.1:n.1189-6T>C
ENST00000684013.1:n.1189-6T>C
ENST00000684099.1:n.1185-6T>C
ENST00000265104.5:c.1090-6T>C MANE Select	ENSP00000265104.4:n.1090-6T>C
ENST00000680213.1:c.850-6T>C	ENSP00000506622.1:n.850-6T>C
ENST00000681290.1:c.1045-6T>C	ENSP00000505288.1:n.1045-6T>C
ENST00000265104.4:c.1090-6T>C	ENSP00000265104.4:n.1090-6T>C
ENST00000508040.1:n.1498-6T>C
NM_001369.2:c.1090-6T>C	NP_001360.1:n.1090-6T>C
XM_005248262.2:c.1045-6T>C	XP_005248319.1:n.1045-6T>C
XM_011513990.1:c.1090-6T>C	XP_011512292.1:n.1090-6T>C
XR_925598.1:n.1297-6T>C
XM_005248262.3:c.1198-6T>C	XP_005248319.2:n.1198-6T>C
XM_017009177.1:c.1198-6T>C	XP_016864666.1:n.1198-6T>C
XM_017009178.1:c.103-6T>C	XP_016864667.1:n.103-6T>C
XM_017009179.2:c.103-6T>C	XP_016864668.1:n.103-6T>C
XM_017009180.1:c.1198-6T>C	XP_016864669.1:n.1198-6T>C
XM_017009181.1:c.1198-6T>C	XP_016864670.1:n.1198-6T>C
XM_017009182.1:c.1198-6T>C	XP_016864671.1:n.1198-6T>C
XM_017009183.1:c.1198-6T>C	XP_016864672.1:n.1198-6T>C
XM_017009184.1:c.1198-6T>C	XP_016864673.1:n.1198-6T>C
XM_017009187.1:c.1198-6T>C	XP_016864676.1:n.1198-6T>C
XM_024454388.1:c.103-6T>C	XP_024310156.1:n.103-6T>C
XM_024454389.1:c.-870-6T>C	XP_024310157.1:n.-870-6T>C
XR_001742034.1:n.1215-6T>C
XR_001742035.1:n.1215-6T>C
NM_001369.3:c.1090-6T>C MANE Select	NP_001360.1:n.1090-6T>C