Canonical Allele Identifier: CA11921279
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs6554809
gnomAD v2: 5-13740976-C-T
gnomAD v3: 5-13740867-C-T
gnomAD v4: 5-13740867-C-T
MyVariant Identifiers: chr5:g.13740976C>T (hg19) chr5:g.13740867C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13740867C>T , CM000667.2:g.13740867C>T GRCh38
NC_000005.9:g.13740976C>T , CM000667.1:g.13740976C>T GRCh37
NC_000005.8:g.13793976C>T NCBI36
NG_013081.1:g.208614G>A
NG_013081.2:g.208614G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11212-3372G>A MANE Select ENSP00000265104.4:n.11212-3372G>A
ENST00000681290.1:c.11167-3372G>A ENSP00000505288.1:n.11167-3372G>A
ENST00000265104.4:c.11212-3372G>A ENSP00000265104.4:n.11212-3372G>A
NM_001369.2:c.11212-3372G>A NP_001360.1:n.11212-3372G>A
XM_005248262.2:c.11167-3372G>A XP_005248319.1:n.11167-3372G>A
XM_005248262.3:c.11320-3372G>A XP_005248319.2:n.11320-3372G>A
XM_017009177.1:c.11320-3372G>A XP_016864666.1:n.11320-3372G>A
XM_017009178.1:c.10225-3372G>A XP_016864667.1:n.10225-3372G>A
XM_017009179.2:c.10225-3372G>A XP_016864668.1:n.10225-3372G>A
XM_017009180.1:c.11320-3372G>A XP_016864669.1:n.11320-3372G>A
XM_017009181.1:c.11320-3372G>A XP_016864670.1:n.11320-3372G>A
XM_017009182.1:c.11320-4935G>A XP_016864671.1:n.11320-4935G>A
XM_017009185.1:c.6409-3372G>A XP_016864674.1:n.6409-3372G>A
XM_017009186.1:c.5962-3372G>A XP_016864675.1:n.5962-3372G>A
XM_017009188.1:c.5299-3372G>A XP_016864677.1:n.5299-3372G>A
XM_024454388.1:c.10225-3372G>A XP_024310156.1:n.10225-3372G>A
XM_024454389.1:c.9814-3372G>A XP_024310157.1:n.9814-3372G>A
NM_001369.3:c.11212-3372G>A MANE Select NP_001360.1:n.11212-3372G>A
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