Canonical Allele Identifier: CA359192414

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701418T>C (hg19) ; chr5:g.13701309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701309T>C , CM000667.2:g.13701309T>C	GRCh38
NC_000005.9:g.13701418T>C , CM000667.1:g.13701418T>C	GRCh37
NC_000005.8:g.13754418T>C	NCBI36
NG_013081.1:g.248172A>G
NG_013081.2:g.248172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.799A>G
ENST00000265104.5:c.13466A>G MANE Select	ENSP00000265104.4:p.Gln4489Arg
ENST00000681290.1:c.13421A>G	ENSP00000505288.1:p.Gln4474Arg
ENST00000265104.4:c.13466A>G	ENSP00000265104.4:p.Gln4489Arg
NM_001369.2:c.13466A>G	NP_001360.1:p.Gln4489Arg
XM_005248262.2:c.13421A>G	XP_005248319.1:p.Gln4474Arg
XM_005248262.3:c.13574A>G	XP_005248319.2:p.Gln4525Arg
XM_017009177.1:c.13154A>G	XP_016864666.1:p.Gln4385Arg
XM_017009178.1:c.12479A>G	XP_016864667.1:p.Gln4160Arg
XM_017009179.2:c.12479A>G	XP_016864668.1:p.Gln4160Arg
XM_017009185.1:c.8663A>G	XP_016864674.1:p.Gln2888Arg
XM_017009186.1:c.8216A>G	XP_016864675.1:p.Gln2739Arg
XM_017009188.1:c.7553A>G	XP_016864677.1:p.Gln2518Arg
XM_024454388.1:c.12479A>G	XP_024310156.1:p.Gln4160Arg
XM_024454389.1:c.12068A>G	XP_024310157.1:p.Gln4023Arg
NM_001369.3:c.13466A>G MANE Select	NP_001360.1:p.Gln4489Arg