Canonical Allele Identifier: CA359196888

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708306T>A (hg19) ; chr5:g.13708197T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708197T>A , CM000667.2:g.13708197T>A	GRCh38
NC_000005.9:g.13708306T>A , CM000667.1:g.13708306T>A	GRCh37
NC_000005.8:g.13761306T>A	NCBI36
NG_013081.1:g.241284A>T
NG_013081.2:g.241284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.597A>T
ENST00000265104.5:c.13264A>T MANE Select	ENSP00000265104.4:p.Ile4422Phe
ENST00000681290.1:c.13219A>T	ENSP00000505288.1:p.Ile4407Phe
ENST00000265104.4:c.13264A>T	ENSP00000265104.4:p.Ile4422Phe
NM_001369.2:c.13264A>T	NP_001360.1:p.Ile4422Phe
XM_005248262.2:c.13219A>T	XP_005248319.1:p.Ile4407Phe
XM_005248262.3:c.13372A>T	XP_005248319.2:p.Ile4458Phe
XM_017009177.1:c.12952A>T	XP_016864666.1:p.Ile4318Phe
XM_017009178.1:c.12277A>T	XP_016864667.1:p.Ile4093Phe
XM_017009179.2:c.12277A>T	XP_016864668.1:p.Ile4093Phe
XM_017009185.1:c.8461A>T	XP_016864674.1:p.Ile2821Phe
XM_017009186.1:c.8014A>T	XP_016864675.1:p.Ile2672Phe
XM_017009188.1:c.7351A>T	XP_016864677.1:p.Ile2451Phe
XM_024454388.1:c.12277A>T	XP_024310156.1:p.Ile4093Phe
XM_024454389.1:c.11866A>T	XP_024310157.1:p.Ile3956Phe
NM_001369.3:c.13264A>T MANE Select	NP_001360.1:p.Ile4422Phe