Canonical Allele Identifier: CA359192583

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701332C>T , CM000667.2:g.13701332C>T	GRCh38
NC_000005.9:g.13701441C>T , CM000667.1:g.13701441C>T	GRCh37
NC_000005.8:g.13754441C>T	NCBI36
NG_013081.1:g.248149G>A
NG_013081.2:g.248149G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13443G>A MANE Select	NP_001360.1:p.Trp4481Ter
ENST00000265104.5:c.13443G>A MANE Select	ENSP00000265104.4:p.Trp4481Ter
NM_001369.2:c.13443G>A	NP_001360.1:p.Trp4481Ter
ENST00000265104.4:c.13443G>A	ENSP00000265104.4:p.Trp4481Ter
ENST00000681290.1:c.13398G>A	ENSP00000505288.1:p.Trp4466Ter
ENST00000683611.1:n.776G>A
XM_005248262.2:c.13398G>A	XP_005248319.1:p.Trp4466Ter
XM_005248262.3:c.13551G>A	XP_005248319.2:p.Trp4517Ter
XM_017009177.1:c.13131G>A	XP_016864666.1:p.Trp4377Ter
XM_017009178.1:c.12456G>A	XP_016864667.1:p.Trp4152Ter
XM_017009179.2:c.12456G>A	XP_016864668.1:p.Trp4152Ter
XM_017009185.1:c.8640G>A	XP_016864674.1:p.Trp2880Ter
XM_017009186.1:c.8193G>A	XP_016864675.1:p.Trp2731Ter
XM_017009188.1:c.7530G>A	XP_016864677.1:p.Trp2510Ter
XM_024454388.1:c.12456G>A	XP_024310156.1:p.Trp4152Ter
XM_024454389.1:c.12045G>A	XP_024310157.1:p.Trp4015Ter