Canonical Allele Identifier: CA359188727

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692214G>A (hg19) ; chr5:g.13692105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692105G>A , CM000667.2:g.13692105G>A	GRCh38
NC_000005.9:g.13692214G>A , CM000667.1:g.13692214G>A	GRCh37
NC_000005.8:g.13745214G>A	NCBI36
NG_013081.1:g.257376C>T
NG_013081.2:g.257376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1087C>T
ENST00000265104.5:c.13754C>T MANE Select	ENSP00000265104.4:p.Pro4585Leu
ENST00000681290.1:c.13709C>T	ENSP00000505288.1:p.Pro4570Leu
ENST00000265104.4:c.13754C>T	ENSP00000265104.4:p.Pro4585Leu
NM_001369.2:c.13754C>T	NP_001360.1:p.Pro4585Leu
XM_005248262.2:c.13709C>T	XP_005248319.1:p.Pro4570Leu
XM_005248262.3:c.13862C>T	XP_005248319.2:p.Pro4621Leu
XM_017009177.1:c.13442C>T	XP_016864666.1:p.Pro4481Leu
XM_017009178.1:c.12767C>T	XP_016864667.1:p.Pro4256Leu
XM_017009179.2:c.12767C>T	XP_016864668.1:p.Pro4256Leu
XM_017009185.1:c.8951C>T	XP_016864674.1:p.Pro2984Leu
XM_017009186.1:c.8504C>T	XP_016864675.1:p.Pro2835Leu
XM_017009188.1:c.7841C>T	XP_016864677.1:p.Pro2614Leu
XM_024454388.1:c.12767C>T	XP_024310156.1:p.Pro4256Leu
XM_024454389.1:c.12356C>T	XP_024310157.1:p.Pro4119Leu
NM_001369.3:c.13754C>T MANE Select	NP_001360.1:p.Pro4585Leu