Canonical Allele Identifier: CA3202100

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1142277
• ClinVar RCV Id: RCV001480012
• dbSNP Id: rs748412220
• ExAC: 5:13752362 G / A
• gnomAD v2: 5-13752362-G-A
• gnomAD v4: 5-13752253-G-A
• MyVariant Identifiers: chr5:g.13752362G>A (hg19) ; chr5:g.13752253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752253G>A , CM000667.2:g.13752253G>A	GRCh38
NC_000005.9:g.13752362G>A , CM000667.1:g.13752362G>A	GRCh37
NC_000005.8:g.13805362G>A	NCBI36
NG_013081.1:g.197228C>T
NG_013081.2:g.197228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10909C>T MANE Select	ENSP00000265104.4:p.Leu3637=
ENST00000681290.1:c.10864C>T	ENSP00000505288.1:p.Leu3622=
ENST00000265104.4:c.10909C>T	ENSP00000265104.4:p.Leu3637=
NM_001369.2:c.10909C>T	NP_001360.1:p.Leu3637=
XM_005248262.2:c.10864C>T	XP_005248319.1:p.Leu3622=
XM_005248262.3:c.11017C>T	XP_005248319.2:p.Leu3673=
XM_017009177.1:c.11017C>T	XP_016864666.1:p.Leu3673=
XM_017009178.1:c.9922C>T	XP_016864667.1:p.Leu3308=
XM_017009179.2:c.9922C>T	XP_016864668.1:p.Leu3308=
XM_017009180.1:c.11017C>T	XP_016864669.1:p.Leu3673=
XM_017009181.1:c.11017C>T	XP_016864670.1:p.Leu3673=
XM_017009182.1:c.11017C>T	XP_016864671.1:p.Leu3673=
XM_017009185.1:c.6106C>T	XP_016864674.1:p.Leu2036=
XM_017009186.1:c.5659C>T	XP_016864675.1:p.Leu1887=
XM_017009188.1:c.4996C>T	XP_016864677.1:p.Leu1666=
XM_024454388.1:c.9922C>T	XP_024310156.1:p.Leu3308=
XM_024454389.1:c.9511C>T	XP_024310157.1:p.Leu3171=
NM_001369.3:c.10909C>T MANE Select	NP_001360.1:p.Leu3637=