Canonical Allele Identifier: CA359192371

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701406G>A (hg19) ; chr5:g.13701297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701297G>A , CM000667.2:g.13701297G>A	GRCh38
NC_000005.9:g.13701406G>A , CM000667.1:g.13701406G>A	GRCh37
NC_000005.8:g.13754406G>A	NCBI36
NG_013081.1:g.248184C>T
NG_013081.2:g.248184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.811C>T
ENST00000265104.5:c.13478C>T MANE Select	ENSP00000265104.4:p.Thr4493Ile
ENST00000681290.1:c.13433C>T	ENSP00000505288.1:p.Thr4478Ile
ENST00000265104.4:c.13478C>T	ENSP00000265104.4:p.Thr4493Ile
NM_001369.2:c.13478C>T	NP_001360.1:p.Thr4493Ile
XM_005248262.2:c.13433C>T	XP_005248319.1:p.Thr4478Ile
XM_005248262.3:c.13586C>T	XP_005248319.2:p.Thr4529Ile
XM_017009177.1:c.13166C>T	XP_016864666.1:p.Thr4389Ile
XM_017009178.1:c.12491C>T	XP_016864667.1:p.Thr4164Ile
XM_017009179.2:c.12491C>T	XP_016864668.1:p.Thr4164Ile
XM_017009185.1:c.8675C>T	XP_016864674.1:p.Thr2892Ile
XM_017009186.1:c.8228C>T	XP_016864675.1:p.Thr2743Ile
XM_017009188.1:c.7565C>T	XP_016864677.1:p.Thr2522Ile
XM_024454388.1:c.12491C>T	XP_024310156.1:p.Thr4164Ile
XM_024454389.1:c.12080C>T	XP_024310157.1:p.Thr4027Ile
NM_001369.3:c.13478C>T MANE Select	NP_001360.1:p.Thr4493Ile