Canonical Allele Identifier: CA359218909

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13792032-T-A
• MyVariant Identifiers: chr5:g.13792141T>A (hg19) ; chr5:g.13792032T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792032T>A , CM000667.2:g.13792032T>A	GRCh38
NC_000005.9:g.13792141T>A , CM000667.1:g.13792141T>A	GRCh37
NC_000005.8:g.13845141T>A	NCBI36
NG_013081.1:g.157449A>T
NG_013081.2:g.157449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8410A>T MANE Select	ENSP00000265104.4:p.Met2804Leu
ENST00000681290.1:c.8365A>T	ENSP00000505288.1:p.Met2789Leu
ENST00000265104.4:c.8410A>T	ENSP00000265104.4:p.Met2804Leu
NM_001369.2:c.8410A>T	NP_001360.1:p.Met2804Leu
XM_005248262.2:c.8365A>T	XP_005248319.1:p.Met2789Leu
XM_011513990.1:c.8410A>T	XP_011512292.1:p.Met2804Leu
XR_925598.1:n.8617A>T
XM_005248262.3:c.8518A>T	XP_005248319.2:p.Met2840Leu
XM_017009177.1:c.8518A>T	XP_016864666.1:p.Met2840Leu
XM_017009178.1:c.7423A>T	XP_016864667.1:p.Met2475Leu
XM_017009179.2:c.7423A>T	XP_016864668.1:p.Met2475Leu
XM_017009180.1:c.8518A>T	XP_016864669.1:p.Met2840Leu
XM_017009181.1:c.8518A>T	XP_016864670.1:p.Met2840Leu
XM_017009182.1:c.8518A>T	XP_016864671.1:p.Met2840Leu
XM_017009183.1:c.8518A>T	XP_016864672.1:p.Met2840Leu
XM_017009184.1:c.8518A>T	XP_016864673.1:p.Met2840Leu
XM_017009185.1:c.3607A>T	XP_016864674.1:p.Met1203Leu
XM_017009186.1:c.3160A>T	XP_016864675.1:p.Met1054Leu
XM_017009188.1:c.2497A>T	XP_016864677.1:p.Met833Leu
XM_024454388.1:c.7423A>T	XP_024310156.1:p.Met2475Leu
XM_024454389.1:c.7012A>T	XP_024310157.1:p.Met2338Leu
XR_001742034.1:n.8535A>T
XR_001742035.1:n.8535A>T
NM_001369.3:c.8410A>T MANE Select	NP_001360.1:p.Met2804Leu