Canonical Allele Identifier: CA359205336

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13771069A>G (hg19) ; chr5:g.13770960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770960A>G , CM000667.2:g.13770960A>G	GRCh38
NC_000005.9:g.13771069A>G , CM000667.1:g.13771069A>G	GRCh37
NC_000005.8:g.13824069A>G	NCBI36
NG_013081.1:g.178521T>C
NG_013081.2:g.178521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9394T>C MANE Select	ENSP00000265104.4:p.Ser3132Pro
ENST00000681290.1:c.9349T>C	ENSP00000505288.1:p.Ser3117Pro
ENST00000265104.4:c.9394T>C	ENSP00000265104.4:p.Ser3132Pro
ENST00000504001.3:n.106T>C
NM_001369.2:c.9394T>C	NP_001360.1:p.Ser3132Pro
XM_005248262.2:c.9349T>C	XP_005248319.1:p.Ser3117Pro
XM_005248262.3:c.9502T>C	XP_005248319.2:p.Ser3168Pro
XM_017009177.1:c.9502T>C	XP_016864666.1:p.Ser3168Pro
XM_017009178.1:c.8407T>C	XP_016864667.1:p.Ser2803Pro
XM_017009179.2:c.8407T>C	XP_016864668.1:p.Ser2803Pro
XM_017009180.1:c.9502T>C	XP_016864669.1:p.Ser3168Pro
XM_017009181.1:c.9502T>C	XP_016864670.1:p.Ser3168Pro
XM_017009182.1:c.9502T>C	XP_016864671.1:p.Ser3168Pro
XM_017009183.1:c.9502T>C	XP_016864672.1:p.Ser3168Pro
XM_017009185.1:c.4591T>C	XP_016864674.1:p.Ser1531Pro
XM_017009186.1:c.4144T>C	XP_016864675.1:p.Ser1382Pro
XM_017009188.1:c.3481T>C	XP_016864677.1:p.Ser1161Pro
XM_024454388.1:c.8407T>C	XP_024310156.1:p.Ser2803Pro
XM_024454389.1:c.7996T>C	XP_024310157.1:p.Ser2666Pro
NM_001369.3:c.9394T>C MANE Select	NP_001360.1:p.Ser3132Pro