Canonical Allele Identifier: CA359223700

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735420T>G (hg19) ; chr5:g.13735311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735311T>G , CM000667.2:g.13735311T>G	GRCh38
NC_000005.9:g.13735420T>G , CM000667.1:g.13735420T>G	GRCh37
NC_000005.8:g.13788420T>G	NCBI36
NG_013081.1:g.214170A>C
NG_013081.2:g.214170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11581A>C MANE Select	ENSP00000265104.4:p.Ser3861Arg
ENST00000681290.1:c.11536A>C	ENSP00000505288.1:p.Ser3846Arg
ENST00000265104.4:c.11581A>C	ENSP00000265104.4:p.Ser3861Arg
NM_001369.2:c.11581A>C	NP_001360.1:p.Ser3861Arg
XM_005248262.2:c.11536A>C	XP_005248319.1:p.Ser3846Arg
XM_005248262.3:c.11689A>C	XP_005248319.2:p.Ser3897Arg
XM_017009177.1:c.11689A>C	XP_016864666.1:p.Ser3897Arg
XM_017009178.1:c.10594A>C	XP_016864667.1:p.Ser3532Arg
XM_017009179.2:c.10594A>C	XP_016864668.1:p.Ser3532Arg
XM_017009180.1:c.11689A>C	XP_016864669.1:p.Ser3897Arg
XM_017009181.1:c.11689A>C	XP_016864670.1:p.Ser3897Arg
XM_017009182.1:c.*15A>C	XP_016864671.1:n.*15A>C
XM_017009185.1:c.6778A>C	XP_016864674.1:p.Ser2260Arg
XM_017009186.1:c.6331A>C	XP_016864675.1:p.Ser2111Arg
XM_017009188.1:c.5668A>C	XP_016864677.1:p.Ser1890Arg
XM_024454388.1:c.10594A>C	XP_024310156.1:p.Ser3532Arg
XM_024454389.1:c.10183A>C	XP_024310157.1:p.Ser3395Arg
NM_001369.3:c.11581A>C MANE Select	NP_001360.1:p.Ser3861Arg