Canonical Allele Identifier: CA3202694

Gene: DNAH5

Linked Data

• dbSNP Id: rs756216163
• ExAC: 5:13781049 G / C
• gnomAD v2: 5-13781049-G-C
• gnomAD v4: 5-13780940-G-C
• MyVariant Identifiers: chr5:g.13781049G>C (hg19) ; chr5:g.13780940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780940G>C , CM000667.2:g.13780940G>C	GRCh38
NC_000005.9:g.13781049G>C , CM000667.1:g.13781049G>C	GRCh37
NC_000005.8:g.13834049G>C	NCBI36
NG_013081.1:g.168541C>G
NG_013081.2:g.168541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8840C>G MANE Select	ENSP00000265104.4:p.Thr2947Ser
ENST00000681290.1:c.8795C>G	ENSP00000505288.1:p.Thr2932Ser
ENST00000265104.4:c.8840C>G	ENSP00000265104.4:p.Thr2947Ser
NM_001369.2:c.8840C>G	NP_001360.1:p.Thr2947Ser
XM_005248262.2:c.8795C>G	XP_005248319.1:p.Thr2932Ser
XM_011513990.1:c.8840C>G	XP_011512292.1:p.Thr2947Ser
XR_925598.1:n.9028-3585C>G
XM_005248262.3:c.8948C>G	XP_005248319.2:p.Thr2983Ser
XM_017009177.1:c.8948C>G	XP_016864666.1:p.Thr2983Ser
XM_017009178.1:c.7853C>G	XP_016864667.1:p.Thr2618Ser
XM_017009179.2:c.7853C>G	XP_016864668.1:p.Thr2618Ser
XM_017009180.1:c.8948C>G	XP_016864669.1:p.Thr2983Ser
XM_017009181.1:c.8948C>G	XP_016864670.1:p.Thr2983Ser
XM_017009182.1:c.8948C>G	XP_016864671.1:p.Thr2983Ser
XM_017009183.1:c.8948C>G	XP_016864672.1:p.Thr2983Ser
XM_017009184.1:c.8948C>G	XP_016864673.1:p.Thr2983Ser
XM_017009185.1:c.4037C>G	XP_016864674.1:p.Thr1346Ser
XM_017009186.1:c.3590C>G	XP_016864675.1:p.Thr1197Ser
XM_017009188.1:c.2927C>G	XP_016864677.1:p.Thr976Ser
XM_024454388.1:c.7853C>G	XP_024310156.1:p.Thr2618Ser
XM_024454389.1:c.7442C>G	XP_024310157.1:p.Thr2481Ser
XR_001742034.1:n.8946-3585C>G
XR_001742035.1:n.8946-3585C>G
NM_001369.3:c.8840C>G MANE Select	NP_001360.1:p.Thr2947Ser