Canonical Allele Identifier: CA359192834

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701465G>T (hg19) ; chr5:g.13701356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701356G>T , CM000667.2:g.13701356G>T	GRCh38
NC_000005.9:g.13701465G>T , CM000667.1:g.13701465G>T	GRCh37
NC_000005.8:g.13754465G>T	NCBI36
NG_013081.1:g.248125C>A
NG_013081.2:g.248125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.752C>A
ENST00000265104.5:c.13419C>A MANE Select	ENSP00000265104.4:p.Phe4473Leu
ENST00000681290.1:c.13374C>A	ENSP00000505288.1:p.Phe4458Leu
ENST00000265104.4:c.13419C>A	ENSP00000265104.4:p.Phe4473Leu
NM_001369.2:c.13419C>A	NP_001360.1:p.Phe4473Leu
XM_005248262.2:c.13374C>A	XP_005248319.1:p.Phe4458Leu
XM_005248262.3:c.13527C>A	XP_005248319.2:p.Phe4509Leu
XM_017009177.1:c.13107C>A	XP_016864666.1:p.Phe4369Leu
XM_017009178.1:c.12432C>A	XP_016864667.1:p.Phe4144Leu
XM_017009179.2:c.12432C>A	XP_016864668.1:p.Phe4144Leu
XM_017009185.1:c.8616C>A	XP_016864674.1:p.Phe2872Leu
XM_017009186.1:c.8169C>A	XP_016864675.1:p.Phe2723Leu
XM_017009188.1:c.7506C>A	XP_016864677.1:p.Phe2502Leu
XM_024454388.1:c.12432C>A	XP_024310156.1:p.Phe4144Leu
XM_024454389.1:c.12021C>A	XP_024310157.1:p.Phe4007Leu
NM_001369.3:c.13419C>A MANE Select	NP_001360.1:p.Phe4473Leu