Canonical Allele Identifier: CA359188728

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2008808
• ClinVar RCV Id: RCV002828892
• MyVariant Identifiers: chr5:g.13692215G>A (hg19) ; chr5:g.13692106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692106G>A , CM000667.2:g.13692106G>A	GRCh38
NC_000005.9:g.13692215G>A , CM000667.1:g.13692215G>A	GRCh37
NC_000005.8:g.13745215G>A	NCBI36
NG_013081.1:g.257375C>T
NG_013081.2:g.257375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1086C>T
ENST00000265104.5:c.13753C>T MANE Select	ENSP00000265104.4:p.Pro4585Ser
ENST00000681290.1:c.13708C>T	ENSP00000505288.1:p.Pro4570Ser
ENST00000265104.4:c.13753C>T	ENSP00000265104.4:p.Pro4585Ser
NM_001369.2:c.13753C>T	NP_001360.1:p.Pro4585Ser
XM_005248262.2:c.13708C>T	XP_005248319.1:p.Pro4570Ser
XM_005248262.3:c.13861C>T	XP_005248319.2:p.Pro4621Ser
XM_017009177.1:c.13441C>T	XP_016864666.1:p.Pro4481Ser
XM_017009178.1:c.12766C>T	XP_016864667.1:p.Pro4256Ser
XM_017009179.2:c.12766C>T	XP_016864668.1:p.Pro4256Ser
XM_017009185.1:c.8950C>T	XP_016864674.1:p.Pro2984Ser
XM_017009186.1:c.8503C>T	XP_016864675.1:p.Pro2835Ser
XM_017009188.1:c.7840C>T	XP_016864677.1:p.Pro2614Ser
XM_024454388.1:c.12766C>T	XP_024310156.1:p.Pro4256Ser
XM_024454389.1:c.12355C>T	XP_024310157.1:p.Pro4119Ser
NM_001369.3:c.13753C>T MANE Select	NP_001360.1:p.Pro4585Ser