Canonical Allele Identifier: CA359201758

Gene: DNAH5

Linked Data

• COSMIC: COSM3608963
• MyVariant Identifiers: chr5:g.13769134C>T (hg19) ; chr5:g.13769025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769025C>T , CM000667.2:g.13769025C>T	GRCh38
NC_000005.9:g.13769134C>T , CM000667.1:g.13769134C>T	GRCh37
NC_000005.8:g.13822134C>T	NCBI36
NG_013081.1:g.180456G>A
NG_013081.2:g.180456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9832G>A MANE Select	ENSP00000265104.4:p.Ala3278Thr
ENST00000681290.1:c.9787G>A	ENSP00000505288.1:p.Ala3263Thr
ENST00000265104.4:c.9832G>A	ENSP00000265104.4:p.Ala3278Thr
ENST00000504001.3:n.544G>A
NM_001369.2:c.9832G>A	NP_001360.1:p.Ala3278Thr
XM_005248262.2:c.9787G>A	XP_005248319.1:p.Ala3263Thr
XM_005248262.3:c.9940G>A	XP_005248319.2:p.Ala3314Thr
XM_017009177.1:c.9940G>A	XP_016864666.1:p.Ala3314Thr
XM_017009178.1:c.8845G>A	XP_016864667.1:p.Ala2949Thr
XM_017009179.2:c.8845G>A	XP_016864668.1:p.Ala2949Thr
XM_017009180.1:c.9940G>A	XP_016864669.1:p.Ala3314Thr
XM_017009181.1:c.9940G>A	XP_016864670.1:p.Ala3314Thr
XM_017009182.1:c.9940G>A	XP_016864671.1:p.Ala3314Thr
XM_017009185.1:c.5029G>A	XP_016864674.1:p.Ala1677Thr
XM_017009186.1:c.4582G>A	XP_016864675.1:p.Ala1528Thr
XM_017009188.1:c.3919G>A	XP_016864677.1:p.Ala1307Thr
XM_024454388.1:c.8845G>A	XP_024310156.1:p.Ala2949Thr
XM_024454389.1:c.8434G>A	XP_024310157.1:p.Ala2812Thr
NM_001369.3:c.9832G>A MANE Select	NP_001360.1:p.Ala3278Thr