Canonical Allele Identifier: CA359190274

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13876900A>C (hg19) ; chr5:g.13876791A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876791A>C , CM000667.2:g.13876791A>C	GRCh38
NC_000005.9:g.13876900A>C , CM000667.1:g.13876900A>C	GRCh37
NC_000005.8:g.13929900A>C	NCBI36
NG_013081.1:g.72690T>G
NG_013081.2:g.72690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3289T>G MANE Select	ENSP00000265104.4:p.Leu1097Val
ENST00000681290.1:c.3244T>G	ENSP00000505288.1:p.Leu1082Val
ENST00000265104.4:c.3289T>G	ENSP00000265104.4:p.Leu1097Val
NM_001369.2:c.3289T>G	NP_001360.1:p.Leu1097Val
XM_005248262.2:c.3244T>G	XP_005248319.1:p.Leu1082Val
XM_011513990.1:c.3289T>G	XP_011512292.1:p.Leu1097Val
XR_925598.1:n.3496T>G
XM_005248262.3:c.3397T>G	XP_005248319.2:p.Leu1133Val
XM_017009177.1:c.3397T>G	XP_016864666.1:p.Leu1133Val
XM_017009178.1:c.2302T>G	XP_016864667.1:p.Leu768Val
XM_017009179.2:c.2302T>G	XP_016864668.1:p.Leu768Val
XM_017009180.1:c.3397T>G	XP_016864669.1:p.Leu1133Val
XM_017009181.1:c.3397T>G	XP_016864670.1:p.Leu1133Val
XM_017009182.1:c.3397T>G	XP_016864671.1:p.Leu1133Val
XM_017009183.1:c.3397T>G	XP_016864672.1:p.Leu1133Val
XM_017009184.1:c.3397T>G	XP_016864673.1:p.Leu1133Val
XM_017009187.1:c.3397T>G	XP_016864676.1:p.Leu1133Val
XM_024454388.1:c.2302T>G	XP_024310156.1:p.Leu768Val
XM_024454389.1:c.1891T>G	XP_024310157.1:p.Leu631Val
XR_001742034.1:n.3414T>G
XR_001742035.1:n.3414T>G
NM_001369.3:c.3289T>G MANE Select	NP_001360.1:p.Leu1097Val