Canonical Allele Identifier: CA359192378

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701408T>G (hg19) ; chr5:g.13701299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701299T>G , CM000667.2:g.13701299T>G	GRCh38
NC_000005.9:g.13701408T>G , CM000667.1:g.13701408T>G	GRCh37
NC_000005.8:g.13754408T>G	NCBI36
NG_013081.1:g.248182A>C
NG_013081.2:g.248182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.809A>C
ENST00000265104.5:c.13476A>C MANE Select	ENSP00000265104.4:p.Leu4492Phe
ENST00000681290.1:c.13431A>C	ENSP00000505288.1:p.Leu4477Phe
ENST00000265104.4:c.13476A>C	ENSP00000265104.4:p.Leu4492Phe
NM_001369.2:c.13476A>C	NP_001360.1:p.Leu4492Phe
XM_005248262.2:c.13431A>C	XP_005248319.1:p.Leu4477Phe
XM_005248262.3:c.13584A>C	XP_005248319.2:p.Leu4528Phe
XM_017009177.1:c.13164A>C	XP_016864666.1:p.Leu4388Phe
XM_017009178.1:c.12489A>C	XP_016864667.1:p.Leu4163Phe
XM_017009179.2:c.12489A>C	XP_016864668.1:p.Leu4163Phe
XM_017009185.1:c.8673A>C	XP_016864674.1:p.Leu2891Phe
XM_017009186.1:c.8226A>C	XP_016864675.1:p.Leu2742Phe
XM_017009188.1:c.7563A>C	XP_016864677.1:p.Leu2521Phe
XM_024454388.1:c.12489A>C	XP_024310156.1:p.Leu4163Phe
XM_024454389.1:c.12078A>C	XP_024310157.1:p.Leu4026Phe
NM_001369.3:c.13476A>C MANE Select	NP_001360.1:p.Leu4492Phe