Canonical Allele Identifier: CA359197876

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708394G>T (hg19) ; chr5:g.13708285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708285G>T , CM000667.2:g.13708285G>T	GRCh38
NC_000005.9:g.13708394G>T , CM000667.1:g.13708394G>T	GRCh37
NC_000005.8:g.13761394G>T	NCBI36
NG_013081.1:g.241196C>A
NG_013081.2:g.241196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.509C>A
ENST00000265104.5:c.13176C>A MANE Select	ENSP00000265104.4:p.Phe4392Leu
ENST00000681290.1:c.13131C>A	ENSP00000505288.1:p.Phe4377Leu
ENST00000265104.4:c.13176C>A	ENSP00000265104.4:p.Phe4392Leu
NM_001369.2:c.13176C>A	NP_001360.1:p.Phe4392Leu
XM_005248262.2:c.13131C>A	XP_005248319.1:p.Phe4377Leu
XM_005248262.3:c.13284C>A	XP_005248319.2:p.Phe4428Leu
XM_017009177.1:c.12864C>A	XP_016864666.1:p.Phe4288Leu
XM_017009178.1:c.12189C>A	XP_016864667.1:p.Phe4063Leu
XM_017009179.2:c.12189C>A	XP_016864668.1:p.Phe4063Leu
XM_017009185.1:c.8373C>A	XP_016864674.1:p.Phe2791Leu
XM_017009186.1:c.7926C>A	XP_016864675.1:p.Phe2642Leu
XM_017009188.1:c.7263C>A	XP_016864677.1:p.Phe2421Leu
XM_024454388.1:c.12189C>A	XP_024310156.1:p.Phe4063Leu
XM_024454389.1:c.11778C>A	XP_024310157.1:p.Phe3926Leu
NM_001369.3:c.13176C>A MANE Select	NP_001360.1:p.Phe4392Leu