Canonical Allele Identifier: CA3201876

Gene: DNAH5

Linked Data

• dbSNP Id: rs766711089
• ExAC: 5:13735320 A / G
• gnomAD v2: 5-13735320-A-G
• gnomAD v3: 5-13735211-A-G
• gnomAD v4: 5-13735211-A-G
• MyVariant Identifiers: chr5:g.13735320A>G (hg19) ; chr5:g.13735211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735211A>G , CM000667.2:g.13735211A>G	GRCh38
NC_000005.9:g.13735320A>G , CM000667.1:g.13735320A>G	GRCh37
NC_000005.8:g.13788320A>G	NCBI36
NG_013081.1:g.214270T>C
NG_013081.2:g.214270T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11681T>C MANE Select	ENSP00000265104.4:p.Leu3894Pro
ENST00000681290.1:c.11636T>C	ENSP00000505288.1:p.Leu3879Pro
ENST00000265104.4:c.11681T>C	ENSP00000265104.4:p.Leu3894Pro
NM_001369.2:c.11681T>C	NP_001360.1:p.Leu3894Pro
XM_005248262.2:c.11636T>C	XP_005248319.1:p.Leu3879Pro
XM_005248262.3:c.11789T>C	XP_005248319.2:p.Leu3930Pro
XM_017009177.1:c.11789T>C	XP_016864666.1:p.Leu3930Pro
XM_017009178.1:c.10694T>C	XP_016864667.1:p.Leu3565Pro
XM_017009179.2:c.10694T>C	XP_016864668.1:p.Leu3565Pro
XM_017009180.1:c.11789T>C	XP_016864669.1:p.Leu3930Pro
XM_017009181.1:c.11789T>C	XP_016864670.1:p.Leu3930Pro
XM_017009185.1:c.6878T>C	XP_016864674.1:p.Leu2293Pro
XM_017009186.1:c.6431T>C	XP_016864675.1:p.Leu2144Pro
XM_017009188.1:c.5768T>C	XP_016864677.1:p.Leu1923Pro
XM_024454388.1:c.10694T>C	XP_024310156.1:p.Leu3565Pro
XM_024454389.1:c.10283T>C	XP_024310157.1:p.Leu3428Pro
NM_001369.3:c.11681T>C MANE Select	NP_001360.1:p.Leu3894Pro