Canonical Allele Identifier: CA359188646

Gene: DNAH5

Linked Data

• dbSNP Id: rs752872674
• MyVariant Identifiers: chr5:g.13692176T>A (hg19) ; chr5:g.13692067T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692067T>A , CM000667.2:g.13692067T>A	GRCh38
NC_000005.9:g.13692176T>A , CM000667.1:g.13692176T>A	GRCh37
NC_000005.8:g.13745176T>A	NCBI36
NG_013081.1:g.257414A>T
NG_013081.2:g.257414A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1125A>T
ENST00000265104.5:c.13792A>T MANE Select	ENSP00000265104.4:p.Ile4598Phe
ENST00000681290.1:c.13747A>T	ENSP00000505288.1:p.Ile4583Phe
ENST00000265104.4:c.13792A>T	ENSP00000265104.4:p.Ile4598Phe
NM_001369.2:c.13792A>T	NP_001360.1:p.Ile4598Phe
XM_005248262.2:c.13747A>T	XP_005248319.1:p.Ile4583Phe
XM_005248262.3:c.13900A>T	XP_005248319.2:p.Ile4634Phe
XM_017009177.1:c.13480A>T	XP_016864666.1:p.Ile4494Phe
XM_017009178.1:c.12805A>T	XP_016864667.1:p.Ile4269Phe
XM_017009179.2:c.12805A>T	XP_016864668.1:p.Ile4269Phe
XM_017009185.1:c.8989A>T	XP_016864674.1:p.Ile2997Phe
XM_017009186.1:c.8542A>T	XP_016864675.1:p.Ile2848Phe
XM_017009188.1:c.7879A>T	XP_016864677.1:p.Ile2627Phe
XM_024454388.1:c.12805A>T	XP_024310156.1:p.Ile4269Phe
XM_024454389.1:c.12394A>T	XP_024310157.1:p.Ile4132Phe
NM_001369.3:c.13792A>T MANE Select	NP_001360.1:p.Ile4598Phe