Canonical Allele Identifier: CA359223091

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735318A>G (hg19) ; chr5:g.13735209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735209A>G , CM000667.2:g.13735209A>G	GRCh38
NC_000005.9:g.13735318A>G , CM000667.1:g.13735318A>G	GRCh37
NC_000005.8:g.13788318A>G	NCBI36
NG_013081.1:g.214272T>C
NG_013081.2:g.214272T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11683T>C MANE Select	ENSP00000265104.4:p.Phe3895Leu
ENST00000681290.1:c.11638T>C	ENSP00000505288.1:p.Phe3880Leu
ENST00000265104.4:c.11683T>C	ENSP00000265104.4:p.Phe3895Leu
NM_001369.2:c.11683T>C	NP_001360.1:p.Phe3895Leu
XM_005248262.2:c.11638T>C	XP_005248319.1:p.Phe3880Leu
XM_005248262.3:c.11791T>C	XP_005248319.2:p.Phe3931Leu
XM_017009177.1:c.11791T>C	XP_016864666.1:p.Phe3931Leu
XM_017009178.1:c.10696T>C	XP_016864667.1:p.Phe3566Leu
XM_017009179.2:c.10696T>C	XP_016864668.1:p.Phe3566Leu
XM_017009180.1:c.11791T>C	XP_016864669.1:p.Phe3931Leu
XM_017009181.1:c.11791T>C	XP_016864670.1:p.Phe3931Leu
XM_017009185.1:c.6880T>C	XP_016864674.1:p.Phe2294Leu
XM_017009186.1:c.6433T>C	XP_016864675.1:p.Phe2145Leu
XM_017009188.1:c.5770T>C	XP_016864677.1:p.Phe1924Leu
XM_024454388.1:c.10696T>C	XP_024310156.1:p.Phe3566Leu
XM_024454389.1:c.10285T>C	XP_024310157.1:p.Phe3429Leu
NM_001369.3:c.11683T>C MANE Select	NP_001360.1:p.Phe3895Leu