Canonical Allele Identifier: CA359190190

Gene: DNAH5

Linked Data

• dbSNP Id: rs777245669
• MyVariant Identifiers: chr5:g.13752330C>G (hg19) ; chr5:g.13752221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752221C>G , CM000667.2:g.13752221C>G	GRCh38
NC_000005.9:g.13752330C>G , CM000667.1:g.13752330C>G	GRCh37
NC_000005.8:g.13805330C>G	NCBI36
NG_013081.1:g.197260G>C
NG_013081.2:g.197260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10941G>C MANE Select	ENSP00000265104.4:p.Leu3647Phe
ENST00000681290.1:c.10896G>C	ENSP00000505288.1:p.Leu3632Phe
ENST00000265104.4:c.10941G>C	ENSP00000265104.4:p.Leu3647Phe
NM_001369.2:c.10941G>C	NP_001360.1:p.Leu3647Phe
XM_005248262.2:c.10896G>C	XP_005248319.1:p.Leu3632Phe
XM_005248262.3:c.11049G>C	XP_005248319.2:p.Leu3683Phe
XM_017009177.1:c.11049G>C	XP_016864666.1:p.Leu3683Phe
XM_017009178.1:c.9954G>C	XP_016864667.1:p.Leu3318Phe
XM_017009179.2:c.9954G>C	XP_016864668.1:p.Leu3318Phe
XM_017009180.1:c.11049G>C	XP_016864669.1:p.Leu3683Phe
XM_017009181.1:c.11049G>C	XP_016864670.1:p.Leu3683Phe
XM_017009182.1:c.11049G>C	XP_016864671.1:p.Leu3683Phe
XM_017009185.1:c.6138G>C	XP_016864674.1:p.Leu2046Phe
XM_017009186.1:c.5691G>C	XP_016864675.1:p.Leu1897Phe
XM_017009188.1:c.5028G>C	XP_016864677.1:p.Leu1676Phe
XM_024454388.1:c.9954G>C	XP_024310156.1:p.Leu3318Phe
XM_024454389.1:c.9543G>C	XP_024310157.1:p.Leu3181Phe
NM_001369.3:c.10941G>C MANE Select	NP_001360.1:p.Leu3647Phe