Canonical Allele Identifier: CA113926944

Gene: DNAH5

Linked Data

• dbSNP Id: rs989347582
• MyVariant Identifiers: chr5:g.13735319C>A (hg19) ; chr5:g.13735210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735210C>A , CM000667.2:g.13735210C>A	GRCh38
NC_000005.9:g.13735319C>A , CM000667.1:g.13735319C>A	GRCh37
NC_000005.8:g.13788319C>A	NCBI36
NG_013081.1:g.214271G>T
NG_013081.2:g.214271G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11682G>T MANE Select	ENSP00000265104.4:p.Leu3894=
ENST00000681290.1:c.11637G>T	ENSP00000505288.1:p.Leu3879=
ENST00000265104.4:c.11682G>T	ENSP00000265104.4:p.Leu3894=
NM_001369.2:c.11682G>T	NP_001360.1:p.Leu3894=
XM_005248262.2:c.11637G>T	XP_005248319.1:p.Leu3879=
XM_005248262.3:c.11790G>T	XP_005248319.2:p.Leu3930=
XM_017009177.1:c.11790G>T	XP_016864666.1:p.Leu3930=
XM_017009178.1:c.10695G>T	XP_016864667.1:p.Leu3565=
XM_017009179.2:c.10695G>T	XP_016864668.1:p.Leu3565=
XM_017009180.1:c.11790G>T	XP_016864669.1:p.Leu3930=
XM_017009181.1:c.11790G>T	XP_016864670.1:p.Leu3930=
XM_017009185.1:c.6879G>T	XP_016864674.1:p.Leu2293=
XM_017009186.1:c.6432G>T	XP_016864675.1:p.Leu2144=
XM_017009188.1:c.5769G>T	XP_016864677.1:p.Leu1923=
XM_024454388.1:c.10695G>T	XP_024310156.1:p.Leu3565=
XM_024454389.1:c.10284G>T	XP_024310157.1:p.Leu3428=
NM_001369.3:c.11682G>T MANE Select	NP_001360.1:p.Leu3894=