Canonical Allele Identifier: CA113948904

Gene: DNAH5

Linked Data

• dbSNP Id: rs867672282
• gnomAD v4: 5-13780871-G-A
• MyVariant Identifiers: chr5:g.13780980G>A (hg19) ; chr5:g.13780871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780871G>A , CM000667.2:g.13780871G>A	GRCh38
NC_000005.9:g.13780980G>A , CM000667.1:g.13780980G>A	GRCh37
NC_000005.8:g.13833980G>A	NCBI36
NG_013081.1:g.168610C>T
NG_013081.2:g.168610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8909C>T MANE Select	ENSP00000265104.4:p.Ser2970Leu
ENST00000681290.1:c.8864C>T	ENSP00000505288.1:p.Ser2955Leu
ENST00000265104.4:c.8909C>T	ENSP00000265104.4:p.Ser2970Leu
NM_001369.2:c.8909C>T	NP_001360.1:p.Ser2970Leu
XM_005248262.2:c.8864C>T	XP_005248319.1:p.Ser2955Leu
XM_011513990.1:c.8909C>T	XP_011512292.1:p.Ser2970Leu
XR_925598.1:n.9028-3516C>T
XM_005248262.3:c.9017C>T	XP_005248319.2:p.Ser3006Leu
XM_017009177.1:c.9017C>T	XP_016864666.1:p.Ser3006Leu
XM_017009178.1:c.7922C>T	XP_016864667.1:p.Ser2641Leu
XM_017009179.2:c.7922C>T	XP_016864668.1:p.Ser2641Leu
XM_017009180.1:c.9017C>T	XP_016864669.1:p.Ser3006Leu
XM_017009181.1:c.9017C>T	XP_016864670.1:p.Ser3006Leu
XM_017009182.1:c.9017C>T	XP_016864671.1:p.Ser3006Leu
XM_017009183.1:c.9017C>T	XP_016864672.1:p.Ser3006Leu
XM_017009184.1:c.9017C>T	XP_016864673.1:p.Ser3006Leu
XM_017009185.1:c.4106C>T	XP_016864674.1:p.Ser1369Leu
XM_017009186.1:c.3659C>T	XP_016864675.1:p.Ser1220Leu
XM_017009188.1:c.2996C>T	XP_016864677.1:p.Ser999Leu
XM_024454388.1:c.7922C>T	XP_024310156.1:p.Ser2641Leu
XM_024454389.1:c.7511C>T	XP_024310157.1:p.Ser2504Leu
XR_001742034.1:n.8946-3516C>T
XR_001742035.1:n.8946-3516C>T
NM_001369.3:c.8909C>T MANE Select	NP_001360.1:p.Ser2970Leu