Canonical Allele Identifier: CA359213464

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721056T>C , CM000667.2:g.13721056T>C	GRCh38
NC_000005.9:g.13721165T>C , CM000667.1:g.13721165T>C	GRCh37
NC_000005.8:g.13774165T>C	NCBI36
NG_013081.1:g.228425A>G
NG_013081.2:g.228425A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12223A>G MANE Select	NP_001360.1:p.Met4075Val
ENST00000265104.5:c.12223A>G MANE Select	ENSP00000265104.4:p.Met4075Val
NM_001369.2:c.12223A>G	NP_001360.1:p.Met4075Val
ENST00000265104.4:c.12223A>G	ENSP00000265104.4:p.Met4075Val
ENST00000681290.1:c.12178A>G	ENSP00000505288.1:p.Met4060Val
XM_005248262.2:c.12178A>G	XP_005248319.1:p.Met4060Val
XM_005248262.3:c.12331A>G	XP_005248319.2:p.Met4111Val
XM_017009177.1:c.12331A>G	XP_016864666.1:p.Met4111Val
XM_017009178.1:c.11236A>G	XP_016864667.1:p.Met3746Val
XM_017009179.2:c.11236A>G	XP_016864668.1:p.Met3746Val
XM_017009180.1:c.12331A>G	XP_016864669.1:p.Met4111Val
XM_017009185.1:c.7420A>G	XP_016864674.1:p.Met2474Val
XM_017009186.1:c.6973A>G	XP_016864675.1:p.Met2325Val
XM_017009188.1:c.6310A>G	XP_016864677.1:p.Met2104Val
XM_024454388.1:c.11236A>G	XP_024310156.1:p.Met3746Val
XM_024454389.1:c.10825A>G	XP_024310157.1:p.Met3609Val