Canonical Allele Identifier: CA359192374

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701407T>A (hg19) ; chr5:g.13701298T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701298T>A , CM000667.2:g.13701298T>A	GRCh38
NC_000005.9:g.13701407T>A , CM000667.1:g.13701407T>A	GRCh37
NC_000005.8:g.13754407T>A	NCBI36
NG_013081.1:g.248183A>T
NG_013081.2:g.248183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.810A>T
ENST00000265104.5:c.13477A>T MANE Select	ENSP00000265104.4:p.Thr4493Ser
ENST00000681290.1:c.13432A>T	ENSP00000505288.1:p.Thr4478Ser
ENST00000265104.4:c.13477A>T	ENSP00000265104.4:p.Thr4493Ser
NM_001369.2:c.13477A>T	NP_001360.1:p.Thr4493Ser
XM_005248262.2:c.13432A>T	XP_005248319.1:p.Thr4478Ser
XM_005248262.3:c.13585A>T	XP_005248319.2:p.Thr4529Ser
XM_017009177.1:c.13165A>T	XP_016864666.1:p.Thr4389Ser
XM_017009178.1:c.12490A>T	XP_016864667.1:p.Thr4164Ser
XM_017009179.2:c.12490A>T	XP_016864668.1:p.Thr4164Ser
XM_017009185.1:c.8674A>T	XP_016864674.1:p.Thr2892Ser
XM_017009186.1:c.8227A>T	XP_016864675.1:p.Thr2743Ser
XM_017009188.1:c.7564A>T	XP_016864677.1:p.Thr2522Ser
XM_024454388.1:c.12490A>T	XP_024310156.1:p.Thr4164Ser
XM_024454389.1:c.12079A>T	XP_024310157.1:p.Thr4027Ser
NM_001369.3:c.13477A>T MANE Select	NP_001360.1:p.Thr4493Ser