Canonical Allele Identifier: CA359213151

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13721134T>A (hg19) ; chr5:g.13721025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721025T>A , CM000667.2:g.13721025T>A	GRCh38
NC_000005.9:g.13721134T>A , CM000667.1:g.13721134T>A	GRCh37
NC_000005.8:g.13774134T>A	NCBI36
NG_013081.1:g.228456A>T
NG_013081.2:g.228456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12254A>T MANE Select	ENSP00000265104.4:p.Lys4085Met
ENST00000681290.1:c.12209A>T	ENSP00000505288.1:p.Lys4070Met
ENST00000265104.4:c.12254A>T	ENSP00000265104.4:p.Lys4085Met
NM_001369.2:c.12254A>T	NP_001360.1:p.Lys4085Met
XM_005248262.2:c.12209A>T	XP_005248319.1:p.Lys4070Met
XM_005248262.3:c.12362A>T	XP_005248319.2:p.Lys4121Met
XM_017009177.1:c.12362A>T	XP_016864666.1:p.Lys4121Met
XM_017009178.1:c.11267A>T	XP_016864667.1:p.Lys3756Met
XM_017009179.2:c.11267A>T	XP_016864668.1:p.Lys3756Met
XM_017009180.1:c.12362A>T	XP_016864669.1:p.Lys4121Met
XM_017009185.1:c.7451A>T	XP_016864674.1:p.Lys2484Met
XM_017009186.1:c.7004A>T	XP_016864675.1:p.Lys2335Met
XM_017009188.1:c.6341A>T	XP_016864677.1:p.Lys2114Met
XM_024454388.1:c.11267A>T	XP_024310156.1:p.Lys3756Met
XM_024454389.1:c.10856A>T	XP_024310157.1:p.Lys3619Met
NM_001369.3:c.12254A>T MANE Select	NP_001360.1:p.Lys4085Met