Canonical Allele Identifier: CA359188737

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692220G>A (hg19) ; chr5:g.13692111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692111G>A , CM000667.2:g.13692111G>A	GRCh38
NC_000005.9:g.13692220G>A , CM000667.1:g.13692220G>A	GRCh37
NC_000005.8:g.13745220G>A	NCBI36
NG_013081.1:g.257370C>T
NG_013081.2:g.257370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1081C>T
ENST00000265104.5:c.13748C>T MANE Select	ENSP00000265104.4:p.Ser4583Phe
ENST00000681290.1:c.13703C>T	ENSP00000505288.1:p.Ser4568Phe
ENST00000265104.4:c.13748C>T	ENSP00000265104.4:p.Ser4583Phe
NM_001369.2:c.13748C>T	NP_001360.1:p.Ser4583Phe
XM_005248262.2:c.13703C>T	XP_005248319.1:p.Ser4568Phe
XM_005248262.3:c.13856C>T	XP_005248319.2:p.Ser4619Phe
XM_017009177.1:c.13436C>T	XP_016864666.1:p.Ser4479Phe
XM_017009178.1:c.12761C>T	XP_016864667.1:p.Ser4254Phe
XM_017009179.2:c.12761C>T	XP_016864668.1:p.Ser4254Phe
XM_017009185.1:c.8945C>T	XP_016864674.1:p.Ser2982Phe
XM_017009186.1:c.8498C>T	XP_016864675.1:p.Ser2833Phe
XM_017009188.1:c.7835C>T	XP_016864677.1:p.Ser2612Phe
XM_024454388.1:c.12761C>T	XP_024310156.1:p.Ser4254Phe
XM_024454389.1:c.12350C>T	XP_024310157.1:p.Ser4117Phe
NM_001369.3:c.13748C>T MANE Select	NP_001360.1:p.Ser4583Phe