Canonical Allele Identifier: CA359191502

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753478T>A (hg19) ; chr5:g.13753369T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753369T>A , CM000667.2:g.13753369T>A	GRCh38
NC_000005.9:g.13753478T>A , CM000667.1:g.13753478T>A	GRCh37
NC_000005.8:g.13806478T>A	NCBI36
NG_013081.1:g.196112A>T
NG_013081.2:g.196112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10736A>T MANE Select	ENSP00000265104.4:p.Gln3579Leu
ENST00000681290.1:c.10691A>T	ENSP00000505288.1:p.Gln3564Leu
ENST00000265104.4:c.10736A>T	ENSP00000265104.4:p.Gln3579Leu
NM_001369.2:c.10736A>T	NP_001360.1:p.Gln3579Leu
XM_005248262.2:c.10691A>T	XP_005248319.1:p.Gln3564Leu
XM_005248262.3:c.10844A>T	XP_005248319.2:p.Gln3615Leu
XM_017009177.1:c.10844A>T	XP_016864666.1:p.Gln3615Leu
XM_017009178.1:c.9749A>T	XP_016864667.1:p.Gln3250Leu
XM_017009179.2:c.9749A>T	XP_016864668.1:p.Gln3250Leu
XM_017009180.1:c.10844A>T	XP_016864669.1:p.Gln3615Leu
XM_017009181.1:c.10844A>T	XP_016864670.1:p.Gln3615Leu
XM_017009182.1:c.10844A>T	XP_016864671.1:p.Gln3615Leu
XM_017009185.1:c.5933A>T	XP_016864674.1:p.Gln1978Leu
XM_017009186.1:c.5486A>T	XP_016864675.1:p.Gln1829Leu
XM_017009188.1:c.4823A>T	XP_016864677.1:p.Gln1608Leu
XM_024454388.1:c.9749A>T	XP_024310156.1:p.Gln3250Leu
XM_024454389.1:c.9338A>T	XP_024310157.1:p.Gln3113Leu
NM_001369.3:c.10736A>T MANE Select	NP_001360.1:p.Gln3579Leu