Canonical Allele Identifier: CA113938391

Gene: DNAH5

Linked Data

• dbSNP Id: rs991713735
• gnomAD v4: 5-13830550-C-G
• MyVariant Identifiers: chr5:g.13830659C>G (hg19) ; chr5:g.13830550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830550C>G , CM000667.2:g.13830550C>G	GRCh38
NC_000005.9:g.13830659C>G , CM000667.1:g.13830659C>G	GRCh37
NC_000005.8:g.13883659C>G	NCBI36
NG_013081.1:g.118931G>C
NG_013081.2:g.118931G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+47G>C
ENST00000265104.5:c.6061+47G>C MANE Select	ENSP00000265104.4:n.6061+47G>C
ENST00000681290.1:c.6016+47G>C	ENSP00000505288.1:n.6016+47G>C
ENST00000265104.4:c.6061+47G>C	ENSP00000265104.4:n.6061+47G>C
NM_001369.2:c.6061+47G>C	NP_001360.1:n.6061+47G>C
XM_005248262.2:c.6016+47G>C	XP_005248319.1:n.6016+47G>C
XM_011513990.1:c.6061+47G>C	XP_011512292.1:n.6061+47G>C
XR_925598.1:n.6268+47G>C
XM_005248262.3:c.6169+47G>C	XP_005248319.2:n.6169+47G>C
XM_017009177.1:c.6169+47G>C	XP_016864666.1:n.6169+47G>C
XM_017009178.1:c.5074+47G>C	XP_016864667.1:n.5074+47G>C
XM_017009179.2:c.5074+47G>C	XP_016864668.1:n.5074+47G>C
XM_017009180.1:c.6169+47G>C	XP_016864669.1:n.6169+47G>C
XM_017009181.1:c.6169+47G>C	XP_016864670.1:n.6169+47G>C
XM_017009182.1:c.6169+47G>C	XP_016864671.1:n.6169+47G>C
XM_017009183.1:c.6169+47G>C	XP_016864672.1:n.6169+47G>C
XM_017009184.1:c.6169+47G>C	XP_016864673.1:n.6169+47G>C
XM_017009185.1:c.1258+47G>C	XP_016864674.1:n.1258+47G>C
XM_017009186.1:c.811+47G>C	XP_016864675.1:n.811+47G>C
XM_017009187.1:c.6169+47G>C	XP_016864676.1:n.6169+47G>C
XM_017009188.1:c.148+47G>C	XP_016864677.1:n.148+47G>C
XM_024454388.1:c.5074+47G>C	XP_024310156.1:n.5074+47G>C
XM_024454389.1:c.4663+47G>C	XP_024310157.1:n.4663+47G>C
XR_001742034.1:n.6186+47G>C
XR_001742035.1:n.6186+47G>C
NM_001369.3:c.6061+47G>C MANE Select	NP_001360.1:n.6061+47G>C