Canonical Allele Identifier: CA113919259

Gene: DNAH5

Linked Data

• dbSNP Id: rs958398853
• gnomAD v2: 5-13753705-G-A
• gnomAD v3: 5-13753596-G-A
• gnomAD v4: 5-13753596-G-A
• MyVariant Identifiers: chr5:g.13753705G>A (hg19) ; chr5:g.13753596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753596G>A , CM000667.2:g.13753596G>A	GRCh38
NC_000005.9:g.13753705G>A , CM000667.1:g.13753705G>A	GRCh37
NC_000005.8:g.13806705G>A	NCBI36
NG_013081.1:g.195885C>T
NG_013081.2:g.195885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10556-47C>T MANE Select	ENSP00000265104.4:n.10556-47C>T
ENST00000681290.1:c.10511-47C>T	ENSP00000505288.1:n.10511-47C>T
ENST00000265104.4:c.10556-47C>T	ENSP00000265104.4:n.10556-47C>T
NM_001369.2:c.10556-47C>T	NP_001360.1:n.10556-47C>T
XM_005248262.2:c.10511-47C>T	XP_005248319.1:n.10511-47C>T
XM_005248262.3:c.10664-47C>T	XP_005248319.2:n.10664-47C>T
XM_017009177.1:c.10664-47C>T	XP_016864666.1:n.10664-47C>T
XM_017009178.1:c.9569-47C>T	XP_016864667.1:n.9569-47C>T
XM_017009179.2:c.9569-47C>T	XP_016864668.1:n.9569-47C>T
XM_017009180.1:c.10664-47C>T	XP_016864669.1:n.10664-47C>T
XM_017009181.1:c.10664-47C>T	XP_016864670.1:n.10664-47C>T
XM_017009182.1:c.10664-47C>T	XP_016864671.1:n.10664-47C>T
XM_017009185.1:c.5753-47C>T	XP_016864674.1:n.5753-47C>T
XM_017009186.1:c.5306-47C>T	XP_016864675.1:n.5306-47C>T
XM_017009188.1:c.4643-47C>T	XP_016864677.1:n.4643-47C>T
XM_024454388.1:c.9569-47C>T	XP_024310156.1:n.9569-47C>T
XM_024454389.1:c.9158-47C>T	XP_024310157.1:n.9158-47C>T
NM_001369.3:c.10556-47C>T MANE Select	NP_001360.1:n.10556-47C>T