Canonical Allele Identifier: CA359208524

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717629C>A (hg19) ; chr5:g.13717520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717520C>A , CM000667.2:g.13717520C>A	GRCh38
NC_000005.9:g.13717629C>A , CM000667.1:g.13717629C>A	GRCh37
NC_000005.8:g.13770629C>A	NCBI36
NG_013081.1:g.231961G>T
NG_013081.2:g.231961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12500G>T MANE Select	ENSP00000265104.4:p.Gly4167Val
ENST00000681290.1:c.12455G>T	ENSP00000505288.1:p.Gly4152Val
ENST00000265104.4:c.12500G>T	ENSP00000265104.4:p.Gly4167Val
NM_001369.2:c.12500G>T	NP_001360.1:p.Gly4167Val
XM_005248262.2:c.12455G>T	XP_005248319.1:p.Gly4152Val
XM_005248262.3:c.12608G>T	XP_005248319.2:p.Gly4203Val
XM_017009177.1:c.12608G>T	XP_016864666.1:p.Gly4203Val
XM_017009178.1:c.11513G>T	XP_016864667.1:p.Gly3838Val
XM_017009179.2:c.11513G>T	XP_016864668.1:p.Gly3838Val
XM_017009180.1:c.12608G>T	XP_016864669.1:p.Gly4203Val
XM_017009185.1:c.7697G>T	XP_016864674.1:p.Gly2566Val
XM_017009186.1:c.7250G>T	XP_016864675.1:p.Gly2417Val
XM_017009188.1:c.6587G>T	XP_016864677.1:p.Gly2196Val
XM_024454388.1:c.11513G>T	XP_024310156.1:p.Gly3838Val
XM_024454389.1:c.11102G>T	XP_024310157.1:p.Gly3701Val
NM_001369.3:c.12500G>T MANE Select	NP_001360.1:p.Gly4167Val