Canonical Allele Identifier: CA3204207

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351190
• ClinVar RCV Id: RCV000262746 ; RCV001095085 ; RCV002466489 ; RCV003902362
• dbSNP Id: rs112124692
• ExAC: 5:13871060 A / G
• gnomAD v2: 5-13871060-A-G
• gnomAD v3: 5-13870951-A-G
• gnomAD v4: 5-13870951-A-G
• MyVariant Identifiers: chr5:g.13871060A>G (hg19) ; chr5:g.13870951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870951A>G , CM000667.2:g.13870951A>G	GRCh38
NC_000005.9:g.13871060A>G , CM000667.1:g.13871060A>G	GRCh37
NC_000005.8:g.13924060A>G	NCBI36
NG_013081.1:g.78530T>C
NG_013081.2:g.78530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3650T>C MANE Select	ENSP00000265104.4:p.Ile1217Thr
ENST00000681290.1:c.3605T>C	ENSP00000505288.1:p.Ile1202Thr
ENST00000265104.4:c.3650T>C	ENSP00000265104.4:p.Ile1217Thr
NM_001369.2:c.3650T>C	NP_001360.1:p.Ile1217Thr
XM_005248262.2:c.3605T>C	XP_005248319.1:p.Ile1202Thr
XM_011513990.1:c.3650T>C	XP_011512292.1:p.Ile1217Thr
XR_925598.1:n.3857T>C
XM_005248262.3:c.3758T>C	XP_005248319.2:p.Ile1253Thr
XM_017009177.1:c.3758T>C	XP_016864666.1:p.Ile1253Thr
XM_017009178.1:c.2663T>C	XP_016864667.1:p.Ile888Thr
XM_017009179.2:c.2663T>C	XP_016864668.1:p.Ile888Thr
XM_017009180.1:c.3758T>C	XP_016864669.1:p.Ile1253Thr
XM_017009181.1:c.3758T>C	XP_016864670.1:p.Ile1253Thr
XM_017009182.1:c.3758T>C	XP_016864671.1:p.Ile1253Thr
XM_017009183.1:c.3758T>C	XP_016864672.1:p.Ile1253Thr
XM_017009184.1:c.3758T>C	XP_016864673.1:p.Ile1253Thr
XM_017009187.1:c.3758T>C	XP_016864676.1:p.Ile1253Thr
XM_024454388.1:c.2663T>C	XP_024310156.1:p.Ile888Thr
XM_024454389.1:c.2252T>C	XP_024310157.1:p.Ile751Thr
XR_001742034.1:n.3775T>C
XR_001742035.1:n.3775T>C
NM_001369.3:c.3650T>C MANE Select	NP_001360.1:p.Ile1217Thr