Canonical Allele Identifier: CA359223037

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735312A>T (hg19) ; chr5:g.13735203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735203A>T , CM000667.2:g.13735203A>T	GRCh38
NC_000005.9:g.13735312A>T , CM000667.1:g.13735312A>T	GRCh37
NC_000005.8:g.13788312A>T	NCBI36
NG_013081.1:g.214278T>A
NG_013081.2:g.214278T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11689T>A MANE Select	ENSP00000265104.4:p.Leu3897Met
ENST00000681290.1:c.11644T>A	ENSP00000505288.1:p.Leu3882Met
ENST00000265104.4:c.11689T>A	ENSP00000265104.4:p.Leu3897Met
NM_001369.2:c.11689T>A	NP_001360.1:p.Leu3897Met
XM_005248262.2:c.11644T>A	XP_005248319.1:p.Leu3882Met
XM_005248262.3:c.11797T>A	XP_005248319.2:p.Leu3933Met
XM_017009177.1:c.11797T>A	XP_016864666.1:p.Leu3933Met
XM_017009178.1:c.10702T>A	XP_016864667.1:p.Leu3568Met
XM_017009179.2:c.10702T>A	XP_016864668.1:p.Leu3568Met
XM_017009180.1:c.11797T>A	XP_016864669.1:p.Leu3933Met
XM_017009181.1:c.11797T>A	XP_016864670.1:p.Leu3933Met
XM_017009185.1:c.6886T>A	XP_016864674.1:p.Leu2296Met
XM_017009186.1:c.6439T>A	XP_016864675.1:p.Leu2147Met
XM_017009188.1:c.5776T>A	XP_016864677.1:p.Leu1926Met
XM_024454388.1:c.10702T>A	XP_024310156.1:p.Leu3568Met
XM_024454389.1:c.10291T>A	XP_024310157.1:p.Leu3431Met
NM_001369.3:c.11689T>A MANE Select	NP_001360.1:p.Leu3897Met