Canonical Allele Identifier: CA359188744

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692223T>A (hg19) ; chr5:g.13692114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692114T>A , CM000667.2:g.13692114T>A	GRCh38
NC_000005.9:g.13692223T>A , CM000667.1:g.13692223T>A	GRCh37
NC_000005.8:g.13745223T>A	NCBI36
NG_013081.1:g.257367A>T
NG_013081.2:g.257367A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1078A>T
ENST00000265104.5:c.13745A>T MANE Select	ENSP00000265104.4:p.Tyr4582Phe
ENST00000681290.1:c.13700A>T	ENSP00000505288.1:p.Tyr4567Phe
ENST00000265104.4:c.13745A>T	ENSP00000265104.4:p.Tyr4582Phe
NM_001369.2:c.13745A>T	NP_001360.1:p.Tyr4582Phe
XM_005248262.2:c.13700A>T	XP_005248319.1:p.Tyr4567Phe
XM_005248262.3:c.13853A>T	XP_005248319.2:p.Tyr4618Phe
XM_017009177.1:c.13433A>T	XP_016864666.1:p.Tyr4478Phe
XM_017009178.1:c.12758A>T	XP_016864667.1:p.Tyr4253Phe
XM_017009179.2:c.12758A>T	XP_016864668.1:p.Tyr4253Phe
XM_017009185.1:c.8942A>T	XP_016864674.1:p.Tyr2981Phe
XM_017009186.1:c.8495A>T	XP_016864675.1:p.Tyr2832Phe
XM_017009188.1:c.7832A>T	XP_016864677.1:p.Tyr2611Phe
XM_024454388.1:c.12758A>T	XP_024310156.1:p.Tyr4253Phe
XM_024454389.1:c.12347A>T	XP_024310157.1:p.Tyr4116Phe
NM_001369.3:c.13745A>T MANE Select	NP_001360.1:p.Tyr4582Phe