Canonical Allele Identifier: CA557871627

Gene: DNAH5

Linked Data

• dbSNP Id: rs372232766
• gnomAD v2: 5-13780890-C-A
• gnomAD v4: 5-13780781-C-A
• MyVariant Identifiers: chr5:g.13780890C>A (hg19) ; chr5:g.13780781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780781C>A , CM000667.2:g.13780781C>A	GRCh38
NC_000005.9:g.13780890C>A , CM000667.1:g.13780890C>A	GRCh37
NC_000005.8:g.13833890C>A	NCBI36
NG_013081.1:g.168700G>T
NG_013081.2:g.168700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8951+48G>T MANE Select	ENSP00000265104.4:n.8951+48G>T
ENST00000681290.1:c.8906+48G>T	ENSP00000505288.1:n.8906+48G>T
ENST00000265104.4:c.8951+48G>T	ENSP00000265104.4:n.8951+48G>T
NM_001369.2:c.8951+48G>T	NP_001360.1:n.8951+48G>T
XM_005248262.2:c.8906+48G>T	XP_005248319.1:n.8906+48G>T
XM_011513990.1:c.8951+48G>T	XP_011512292.1:n.8951+48G>T
XR_925598.1:n.9028-3426G>T
XM_005248262.3:c.9059+48G>T	XP_005248319.2:n.9059+48G>T
XM_017009177.1:c.9059+48G>T	XP_016864666.1:n.9059+48G>T
XM_017009178.1:c.7964+48G>T	XP_016864667.1:n.7964+48G>T
XM_017009179.2:c.7964+48G>T	XP_016864668.1:n.7964+48G>T
XM_017009180.1:c.9059+48G>T	XP_016864669.1:n.9059+48G>T
XM_017009181.1:c.9059+48G>T	XP_016864670.1:n.9059+48G>T
XM_017009182.1:c.9059+48G>T	XP_016864671.1:n.9059+48G>T
XM_017009183.1:c.9059+48G>T	XP_016864672.1:n.9059+48G>T
XM_017009184.1:c.9059+48G>T	XP_016864673.1:n.9059+48G>T
XM_017009185.1:c.4148+48G>T	XP_016864674.1:n.4148+48G>T
XM_017009186.1:c.3701+48G>T	XP_016864675.1:n.3701+48G>T
XM_017009188.1:c.3038+48G>T	XP_016864677.1:n.3038+48G>T
XM_024454388.1:c.7964+48G>T	XP_024310156.1:n.7964+48G>T
XM_024454389.1:c.7553+48G>T	XP_024310157.1:n.7553+48G>T
XR_001742034.1:n.8946-3426G>T
XR_001742035.1:n.8946-3426G>T
NM_001369.3:c.8951+48G>T MANE Select	NP_001360.1:n.8951+48G>T