Canonical Allele Identifier: CA359207788

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776555T>G (hg19) ; chr5:g.13776446T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776446T>G , CM000667.2:g.13776446T>G	GRCh38
NC_000005.9:g.13776555T>G , CM000667.1:g.13776555T>G	GRCh37
NC_000005.8:g.13829555T>G	NCBI36
NG_013081.1:g.173035A>C
NG_013081.2:g.173035A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9366A>C MANE Select	ENSP00000265104.4:p.Leu3122Phe
ENST00000681290.1:c.9321A>C	ENSP00000505288.1:p.Leu3107Phe
ENST00000265104.4:c.9366A>C	ENSP00000265104.4:p.Leu3122Phe
NM_001369.2:c.9366A>C	NP_001360.1:p.Leu3122Phe
XM_005248262.2:c.9321A>C	XP_005248319.1:p.Leu3107Phe
XM_005248262.3:c.9474A>C	XP_005248319.2:p.Leu3158Phe
XM_017009177.1:c.9474A>C	XP_016864666.1:p.Leu3158Phe
XM_017009178.1:c.8379A>C	XP_016864667.1:p.Leu2793Phe
XM_017009179.2:c.8379A>C	XP_016864668.1:p.Leu2793Phe
XM_017009180.1:c.9474A>C	XP_016864669.1:p.Leu3158Phe
XM_017009181.1:c.9474A>C	XP_016864670.1:p.Leu3158Phe
XM_017009182.1:c.9474A>C	XP_016864671.1:p.Leu3158Phe
XM_017009183.1:c.9474A>C	XP_016864672.1:p.Leu3158Phe
XM_017009185.1:c.4563A>C	XP_016864674.1:p.Leu1521Phe
XM_017009186.1:c.4116A>C	XP_016864675.1:p.Leu1372Phe
XM_017009188.1:c.3453A>C	XP_016864677.1:p.Leu1151Phe
XM_024454388.1:c.8379A>C	XP_024310156.1:p.Leu2793Phe
XM_024454389.1:c.7968A>C	XP_024310157.1:p.Leu2656Phe
NM_001369.3:c.9366A>C MANE Select	NP_001360.1:p.Leu3122Phe