Canonical Allele Identifier: CA359209068

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776703T>A (hg19) ; chr5:g.13776594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776594T>A , CM000667.2:g.13776594T>A	GRCh38
NC_000005.9:g.13776703T>A , CM000667.1:g.13776703T>A	GRCh37
NC_000005.8:g.13829703T>A	NCBI36
NG_013081.1:g.172887A>T
NG_013081.2:g.172887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9218A>T MANE Select	ENSP00000265104.4:p.Tyr3073Phe
ENST00000681290.1:c.9173A>T	ENSP00000505288.1:p.Tyr3058Phe
ENST00000265104.4:c.9218A>T	ENSP00000265104.4:p.Tyr3073Phe
NM_001369.2:c.9218A>T	NP_001360.1:p.Tyr3073Phe
XM_005248262.2:c.9173A>T	XP_005248319.1:p.Tyr3058Phe
XM_005248262.3:c.9326A>T	XP_005248319.2:p.Tyr3109Phe
XM_017009177.1:c.9326A>T	XP_016864666.1:p.Tyr3109Phe
XM_017009178.1:c.8231A>T	XP_016864667.1:p.Tyr2744Phe
XM_017009179.2:c.8231A>T	XP_016864668.1:p.Tyr2744Phe
XM_017009180.1:c.9326A>T	XP_016864669.1:p.Tyr3109Phe
XM_017009181.1:c.9326A>T	XP_016864670.1:p.Tyr3109Phe
XM_017009182.1:c.9326A>T	XP_016864671.1:p.Tyr3109Phe
XM_017009183.1:c.9326A>T	XP_016864672.1:p.Tyr3109Phe
XM_017009185.1:c.4415A>T	XP_016864674.1:p.Tyr1472Phe
XM_017009186.1:c.3968A>T	XP_016864675.1:p.Tyr1323Phe
XM_017009188.1:c.3305A>T	XP_016864677.1:p.Tyr1102Phe
XM_024454388.1:c.8231A>T	XP_024310156.1:p.Tyr2744Phe
XM_024454389.1:c.7820A>T	XP_024310157.1:p.Tyr2607Phe
NM_001369.3:c.9218A>T MANE Select	NP_001360.1:p.Tyr3073Phe