Canonical Allele Identifier: CA359188732

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692217C>A (hg19) ; chr5:g.13692108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692108C>A , CM000667.2:g.13692108C>A	GRCh38
NC_000005.9:g.13692217C>A , CM000667.1:g.13692217C>A	GRCh37
NC_000005.8:g.13745217C>A	NCBI36
NG_013081.1:g.257373G>T
NG_013081.2:g.257373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1084G>T
ENST00000265104.5:c.13751G>T MANE Select	ENSP00000265104.4:p.Cys4584Phe
ENST00000681290.1:c.13706G>T	ENSP00000505288.1:p.Cys4569Phe
ENST00000265104.4:c.13751G>T	ENSP00000265104.4:p.Cys4584Phe
NM_001369.2:c.13751G>T	NP_001360.1:p.Cys4584Phe
XM_005248262.2:c.13706G>T	XP_005248319.1:p.Cys4569Phe
XM_005248262.3:c.13859G>T	XP_005248319.2:p.Cys4620Phe
XM_017009177.1:c.13439G>T	XP_016864666.1:p.Cys4480Phe
XM_017009178.1:c.12764G>T	XP_016864667.1:p.Cys4255Phe
XM_017009179.2:c.12764G>T	XP_016864668.1:p.Cys4255Phe
XM_017009185.1:c.8948G>T	XP_016864674.1:p.Cys2983Phe
XM_017009186.1:c.8501G>T	XP_016864675.1:p.Cys2834Phe
XM_017009188.1:c.7838G>T	XP_016864677.1:p.Cys2613Phe
XM_024454388.1:c.12764G>T	XP_024310156.1:p.Cys4255Phe
XM_024454389.1:c.12353G>T	XP_024310157.1:p.Cys4118Phe
NM_001369.3:c.13751G>T MANE Select	NP_001360.1:p.Cys4584Phe