Canonical Allele Identifier: CA359204970

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13771014C>T (hg19) ; chr5:g.13770905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770905C>T , CM000667.2:g.13770905C>T	GRCh38
NC_000005.9:g.13771014C>T , CM000667.1:g.13771014C>T	GRCh37
NC_000005.8:g.13824014C>T	NCBI36
NG_013081.1:g.178576G>A
NG_013081.2:g.178576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9449G>A MANE Select	ENSP00000265104.4:p.Gly3150Asp
ENST00000681290.1:c.9404G>A	ENSP00000505288.1:p.Gly3135Asp
ENST00000265104.4:c.9449G>A	ENSP00000265104.4:p.Gly3150Asp
ENST00000504001.3:n.161G>A
NM_001369.2:c.9449G>A	NP_001360.1:p.Gly3150Asp
XM_005248262.2:c.9404G>A	XP_005248319.1:p.Gly3135Asp
XM_005248262.3:c.9557G>A	XP_005248319.2:p.Gly3186Asp
XM_017009177.1:c.9557G>A	XP_016864666.1:p.Gly3186Asp
XM_017009178.1:c.8462G>A	XP_016864667.1:p.Gly2821Asp
XM_017009179.2:c.8462G>A	XP_016864668.1:p.Gly2821Asp
XM_017009180.1:c.9557G>A	XP_016864669.1:p.Gly3186Asp
XM_017009181.1:c.9557G>A	XP_016864670.1:p.Gly3186Asp
XM_017009182.1:c.9557G>A	XP_016864671.1:p.Gly3186Asp
XM_017009183.1:c.9557G>A	XP_016864672.1:p.Gly3186Asp
XM_017009185.1:c.4646G>A	XP_016864674.1:p.Gly1549Asp
XM_017009186.1:c.4199G>A	XP_016864675.1:p.Gly1400Asp
XM_017009188.1:c.3536G>A	XP_016864677.1:p.Gly1179Asp
XM_024454388.1:c.8462G>A	XP_024310156.1:p.Gly2821Asp
XM_024454389.1:c.8051G>A	XP_024310157.1:p.Gly2684Asp
NM_001369.3:c.9449G>A MANE Select	NP_001360.1:p.Gly3150Asp