Canonical Allele Identifier: CA443275759

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2157843
• ClinVar RCV Id: RCV003079681
• gnomAD v4: 5-13916432-A-G
• MyVariant Identifiers: chr5:g.13916541A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916432A>G , CM000667.2:g.13916432A>G	GRCh38
NC_000005.9:g.13916541A>G , CM000667.1:g.13916541A>G	GRCh37
NC_000005.8:g.13969541A>G	NCBI36
NG_013081.1:g.33049T>C
NG_013081.2:g.33049T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1169T>C
ENST00000682376.1:n.3076T>C
ENST00000683011.1:n.1052T>C
ENST00000683967.1:n.1212T>C
ENST00000684013.1:n.1212T>C
ENST00000684099.1:n.1208T>C
ENST00000265104.5:c.1113T>C MANE Select	ENSP00000265104.4:p.Pro371=
ENST00000680213.1:c.873T>C	ENSP00000506622.1:p.Pro291=
ENST00000681290.1:c.1068T>C	ENSP00000505288.1:p.Pro356=
ENST00000265104.4:c.1113T>C	ENSP00000265104.4:p.Pro371=
ENST00000508040.1:n.1521T>C
NM_001369.2:c.1113T>C	NP_001360.1:p.Pro371=
XM_005248262.2:c.1068T>C	XP_005248319.1:p.Pro356=
XM_011513990.1:c.1113T>C	XP_011512292.1:p.Pro371=
XR_925598.1:n.1320T>C
XM_005248262.3:c.1221T>C	XP_005248319.2:p.Pro407=
XM_017009177.1:c.1221T>C	XP_016864666.1:p.Pro407=
XM_017009178.1:c.126T>C	XP_016864667.1:p.Pro42=
XM_017009179.2:c.126T>C	XP_016864668.1:p.Pro42=
XM_017009180.1:c.1221T>C	XP_016864669.1:p.Pro407=
XM_017009181.1:c.1221T>C	XP_016864670.1:p.Pro407=
XM_017009182.1:c.1221T>C	XP_016864671.1:p.Pro407=
XM_017009183.1:c.1221T>C	XP_016864672.1:p.Pro407=
XM_017009184.1:c.1221T>C	XP_016864673.1:p.Pro407=
XM_017009187.1:c.1221T>C	XP_016864676.1:p.Pro407=
XM_024454388.1:c.126T>C	XP_024310156.1:p.Pro42=
XM_024454389.1:c.-847T>C	XP_024310157.1:n.-847T>C
XR_001742034.1:n.1238T>C
XR_001742035.1:n.1238T>C
NM_001369.3:c.1113T>C MANE Select	NP_001360.1:p.Pro371=