Canonical Allele Identifier: CA359188724

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692212T>G (hg19) ; chr5:g.13692103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692103T>G , CM000667.2:g.13692103T>G	GRCh38
NC_000005.9:g.13692212T>G , CM000667.1:g.13692212T>G	GRCh37
NC_000005.8:g.13745212T>G	NCBI36
NG_013081.1:g.257378A>C
NG_013081.2:g.257378A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1089A>C
ENST00000265104.5:c.13756A>C MANE Select	ENSP00000265104.4:p.Ile4586Leu
ENST00000681290.1:c.13711A>C	ENSP00000505288.1:p.Ile4571Leu
ENST00000265104.4:c.13756A>C	ENSP00000265104.4:p.Ile4586Leu
NM_001369.2:c.13756A>C	NP_001360.1:p.Ile4586Leu
XM_005248262.2:c.13711A>C	XP_005248319.1:p.Ile4571Leu
XM_005248262.3:c.13864A>C	XP_005248319.2:p.Ile4622Leu
XM_017009177.1:c.13444A>C	XP_016864666.1:p.Ile4482Leu
XM_017009178.1:c.12769A>C	XP_016864667.1:p.Ile4257Leu
XM_017009179.2:c.12769A>C	XP_016864668.1:p.Ile4257Leu
XM_017009185.1:c.8953A>C	XP_016864674.1:p.Ile2985Leu
XM_017009186.1:c.8506A>C	XP_016864675.1:p.Ile2836Leu
XM_017009188.1:c.7843A>C	XP_016864677.1:p.Ile2615Leu
XM_024454388.1:c.12769A>C	XP_024310156.1:p.Ile4257Leu
XM_024454389.1:c.12358A>C	XP_024310157.1:p.Ile4120Leu
NM_001369.3:c.13756A>C MANE Select	NP_001360.1:p.Ile4586Leu