Canonical Allele Identifier: CA359232303

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13810218-A-G
• MyVariant Identifiers: chr5:g.13810327A>G (hg19) ; chr5:g.13810218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810218A>G , CM000667.2:g.13810218A>G	GRCh38
NC_000005.9:g.13810327A>G , CM000667.1:g.13810327A>G	GRCh37
NC_000005.8:g.13863327A>G	NCBI36
NG_013081.1:g.139263T>C
NG_013081.2:g.139263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.7450T>C MANE Select	ENSP00000265104.4:p.Phe2484Leu
ENST00000681290.1:c.7405T>C	ENSP00000505288.1:p.Phe2469Leu
ENST00000265104.4:c.7450T>C	ENSP00000265104.4:p.Phe2484Leu
ENST00000512443.1:n.306T>C
NM_001369.2:c.7450T>C	NP_001360.1:p.Phe2484Leu
XM_005248262.2:c.7405T>C	XP_005248319.1:p.Phe2469Leu
XM_011513990.1:c.7450T>C	XP_011512292.1:p.Phe2484Leu
XR_925598.1:n.7657T>C
XM_005248262.3:c.7558T>C	XP_005248319.2:p.Phe2520Leu
XM_017009177.1:c.7558T>C	XP_016864666.1:p.Phe2520Leu
XM_017009178.1:c.6463T>C	XP_016864667.1:p.Phe2155Leu
XM_017009179.2:c.6463T>C	XP_016864668.1:p.Phe2155Leu
XM_017009180.1:c.7558T>C	XP_016864669.1:p.Phe2520Leu
XM_017009181.1:c.7558T>C	XP_016864670.1:p.Phe2520Leu
XM_017009182.1:c.7558T>C	XP_016864671.1:p.Phe2520Leu
XM_017009183.1:c.7558T>C	XP_016864672.1:p.Phe2520Leu
XM_017009184.1:c.7558T>C	XP_016864673.1:p.Phe2520Leu
XM_017009185.1:c.2647T>C	XP_016864674.1:p.Phe883Leu
XM_017009186.1:c.2200T>C	XP_016864675.1:p.Phe734Leu
XM_017009187.1:c.7558T>C	XP_016864676.1:p.Phe2520Leu
XM_017009188.1:c.1537T>C	XP_016864677.1:p.Phe513Leu
XM_024454388.1:c.6463T>C	XP_024310156.1:p.Phe2155Leu
XM_024454389.1:c.6052T>C	XP_024310157.1:p.Phe2018Leu
XR_001742034.1:n.7575T>C
XR_001742035.1:n.7575T>C
NM_001369.3:c.7450T>C MANE Select	NP_001360.1:p.Phe2484Leu