Canonical Allele Identifier: CA113982044

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 520776
• ClinVar RCV Id: RCV000623850 ; RCV001234224 ; RCV002272304
• dbSNP Id: rs981267400
• gnomAD v2: 5-13871671-A-G
• gnomAD v4: 5-13871562-A-G
• MyVariant Identifiers: chr5:g.13871671A>G (hg19) ; chr5:g.13871562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871562A>G , CM000667.2:g.13871562A>G	GRCh38
NC_000005.9:g.13871671A>G , CM000667.1:g.13871671A>G	GRCh37
NC_000005.8:g.13924671A>G	NCBI36
NG_013081.1:g.77919T>C
NG_013081.2:g.77919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3598+2T>C MANE Select	ENSP00000265104.4:n.3598+2T>C
ENST00000681290.1:c.3553+2T>C	ENSP00000505288.1:n.3553+2T>C
ENST00000265104.4:c.3598+2T>C	ENSP00000265104.4:n.3598+2T>C
NM_001369.2:c.3598+2T>C	NP_001360.1:n.3598+2T>C
XM_005248262.2:c.3553+2T>C	XP_005248319.1:n.3553+2T>C
XM_011513990.1:c.3598+2T>C	XP_011512292.1:n.3598+2T>C
XR_925598.1:n.3805+2T>C
XM_005248262.3:c.3706+2T>C	XP_005248319.2:n.3706+2T>C
XM_017009177.1:c.3706+2T>C	XP_016864666.1:n.3706+2T>C
XM_017009178.1:c.2611+2T>C	XP_016864667.1:n.2611+2T>C
XM_017009179.2:c.2611+2T>C	XP_016864668.1:n.2611+2T>C
XM_017009180.1:c.3706+2T>C	XP_016864669.1:n.3706+2T>C
XM_017009181.1:c.3706+2T>C	XP_016864670.1:n.3706+2T>C
XM_017009182.1:c.3706+2T>C	XP_016864671.1:n.3706+2T>C
XM_017009183.1:c.3706+2T>C	XP_016864672.1:n.3706+2T>C
XM_017009184.1:c.3706+2T>C	XP_016864673.1:n.3706+2T>C
XM_017009187.1:c.3706+2T>C	XP_016864676.1:n.3706+2T>C
XM_024454388.1:c.2611+2T>C	XP_024310156.1:n.2611+2T>C
XM_024454389.1:c.2200+2T>C	XP_024310157.1:n.2200+2T>C
XR_001742034.1:n.3723+2T>C
XR_001742035.1:n.3723+2T>C
NM_001369.3:c.3598+2T>C MANE Select	NP_001360.1:n.3598+2T>C