Canonical Allele Identifier: CA359208133

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776592G>A (hg19) ; chr5:g.13776483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776483G>A , CM000667.2:g.13776483G>A	GRCh38
NC_000005.9:g.13776592G>A , CM000667.1:g.13776592G>A	GRCh37
NC_000005.8:g.13829592G>A	NCBI36
NG_013081.1:g.172998C>T
NG_013081.2:g.172998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9329C>T MANE Select	ENSP00000265104.4:p.Thr3110Ile
ENST00000681290.1:c.9284C>T	ENSP00000505288.1:p.Thr3095Ile
ENST00000265104.4:c.9329C>T	ENSP00000265104.4:p.Thr3110Ile
NM_001369.2:c.9329C>T	NP_001360.1:p.Thr3110Ile
XM_005248262.2:c.9284C>T	XP_005248319.1:p.Thr3095Ile
XM_005248262.3:c.9437C>T	XP_005248319.2:p.Thr3146Ile
XM_017009177.1:c.9437C>T	XP_016864666.1:p.Thr3146Ile
XM_017009178.1:c.8342C>T	XP_016864667.1:p.Thr2781Ile
XM_017009179.2:c.8342C>T	XP_016864668.1:p.Thr2781Ile
XM_017009180.1:c.9437C>T	XP_016864669.1:p.Thr3146Ile
XM_017009181.1:c.9437C>T	XP_016864670.1:p.Thr3146Ile
XM_017009182.1:c.9437C>T	XP_016864671.1:p.Thr3146Ile
XM_017009183.1:c.9437C>T	XP_016864672.1:p.Thr3146Ile
XM_017009185.1:c.4526C>T	XP_016864674.1:p.Thr1509Ile
XM_017009186.1:c.4079C>T	XP_016864675.1:p.Thr1360Ile
XM_017009188.1:c.3416C>T	XP_016864677.1:p.Thr1139Ile
XM_024454388.1:c.8342C>T	XP_024310156.1:p.Thr2781Ile
XM_024454389.1:c.7931C>T	XP_024310157.1:p.Thr2644Ile
NM_001369.3:c.9329C>T MANE Select	NP_001360.1:p.Thr3110Ile