Canonical Allele Identifier: CA3202432

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 698819
• ClinVar RCV Id: RCV000866385 ; RCV003485653
• dbSNP Id: rs139293893
• ExAC: 5:13769215 C / A
• gnomAD v2: 5-13769215-C-A
• gnomAD v3: 5-13769106-C-A
• gnomAD v4: 5-13769106-C-A
• MyVariant Identifiers: chr5:g.13769215C>A (hg19) ; chr5:g.13769106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769106C>A , CM000667.2:g.13769106C>A	GRCh38
NC_000005.9:g.13769215C>A , CM000667.1:g.13769215C>A	GRCh37
NC_000005.8:g.13822215C>A	NCBI36
NG_013081.1:g.180375G>T
NG_013081.2:g.180375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9751G>T MANE Select	ENSP00000265104.4:p.Ala3251Ser
ENST00000681290.1:c.9706G>T	ENSP00000505288.1:p.Ala3236Ser
ENST00000265104.4:c.9751G>T	ENSP00000265104.4:p.Ala3251Ser
ENST00000504001.3:n.463G>T
NM_001369.2:c.9751G>T	NP_001360.1:p.Ala3251Ser
XM_005248262.2:c.9706G>T	XP_005248319.1:p.Ala3236Ser
XM_005248262.3:c.9859G>T	XP_005248319.2:p.Ala3287Ser
XM_017009177.1:c.9859G>T	XP_016864666.1:p.Ala3287Ser
XM_017009178.1:c.8764G>T	XP_016864667.1:p.Ala2922Ser
XM_017009179.2:c.8764G>T	XP_016864668.1:p.Ala2922Ser
XM_017009180.1:c.9859G>T	XP_016864669.1:p.Ala3287Ser
XM_017009181.1:c.9859G>T	XP_016864670.1:p.Ala3287Ser
XM_017009182.1:c.9859G>T	XP_016864671.1:p.Ala3287Ser
XM_017009185.1:c.4948G>T	XP_016864674.1:p.Ala1650Ser
XM_017009186.1:c.4501G>T	XP_016864675.1:p.Ala1501Ser
XM_017009188.1:c.3838G>T	XP_016864677.1:p.Ala1280Ser
XM_024454388.1:c.8764G>T	XP_024310156.1:p.Ala2922Ser
XM_024454389.1:c.8353G>T	XP_024310157.1:p.Ala2785Ser
NM_001369.3:c.9751G>T MANE Select	NP_001360.1:p.Ala3251Ser