Canonical Allele Identifier: CA359188602

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692154G>A (hg19) ; chr5:g.13692045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692045G>A , CM000667.2:g.13692045G>A	GRCh38
NC_000005.9:g.13692154G>A , CM000667.1:g.13692154G>A	GRCh37
NC_000005.8:g.13745154G>A	NCBI36
NG_013081.1:g.257436C>T
NG_013081.2:g.257436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1147C>T
ENST00000265104.5:c.13814C>T MANE Select	ENSP00000265104.4:p.Thr4605Ile
ENST00000681290.1:c.13769C>T	ENSP00000505288.1:p.Thr4590Ile
ENST00000265104.4:c.13814C>T	ENSP00000265104.4:p.Thr4605Ile
NM_001369.2:c.13814C>T	NP_001360.1:p.Thr4605Ile
XM_005248262.2:c.13769C>T	XP_005248319.1:p.Thr4590Ile
XM_005248262.3:c.13922C>T	XP_005248319.2:p.Thr4641Ile
XM_017009177.1:c.13502C>T	XP_016864666.1:p.Thr4501Ile
XM_017009178.1:c.12827C>T	XP_016864667.1:p.Thr4276Ile
XM_017009179.2:c.12827C>T	XP_016864668.1:p.Thr4276Ile
XM_017009185.1:c.9011C>T	XP_016864674.1:p.Thr3004Ile
XM_017009186.1:c.8564C>T	XP_016864675.1:p.Thr2855Ile
XM_017009188.1:c.7901C>T	XP_016864677.1:p.Thr2634Ile
XM_024454388.1:c.12827C>T	XP_024310156.1:p.Thr4276Ile
XM_024454389.1:c.12416C>T	XP_024310157.1:p.Thr4139Ile
NM_001369.3:c.13814C>T MANE Select	NP_001360.1:p.Thr4605Ile