Canonical Allele Identifier: CA359212823

Gene: DNAH5

Linked Data

• dbSNP Id: rs1253248581
• gnomAD v3: 5-13780904-C-G
• gnomAD v4: 5-13780904-C-G
• MyVariant Identifiers: chr5:g.13781013C>G (hg19) ; chr5:g.13780904C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780904C>G , CM000667.2:g.13780904C>G	GRCh38
NC_000005.9:g.13781013C>G , CM000667.1:g.13781013C>G	GRCh37
NC_000005.8:g.13834013C>G	NCBI36
NG_013081.1:g.168577G>C
NG_013081.2:g.168577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8876G>C MANE Select	ENSP00000265104.4:p.Gly2959Ala
ENST00000681290.1:c.8831G>C	ENSP00000505288.1:p.Gly2944Ala
ENST00000265104.4:c.8876G>C	ENSP00000265104.4:p.Gly2959Ala
NM_001369.2:c.8876G>C	NP_001360.1:p.Gly2959Ala
XM_005248262.2:c.8831G>C	XP_005248319.1:p.Gly2944Ala
XM_011513990.1:c.8876G>C	XP_011512292.1:p.Gly2959Ala
XR_925598.1:n.9028-3549G>C
XM_005248262.3:c.8984G>C	XP_005248319.2:p.Gly2995Ala
XM_017009177.1:c.8984G>C	XP_016864666.1:p.Gly2995Ala
XM_017009178.1:c.7889G>C	XP_016864667.1:p.Gly2630Ala
XM_017009179.2:c.7889G>C	XP_016864668.1:p.Gly2630Ala
XM_017009180.1:c.8984G>C	XP_016864669.1:p.Gly2995Ala
XM_017009181.1:c.8984G>C	XP_016864670.1:p.Gly2995Ala
XM_017009182.1:c.8984G>C	XP_016864671.1:p.Gly2995Ala
XM_017009183.1:c.8984G>C	XP_016864672.1:p.Gly2995Ala
XM_017009184.1:c.8984G>C	XP_016864673.1:p.Gly2995Ala
XM_017009185.1:c.4073G>C	XP_016864674.1:p.Gly1358Ala
XM_017009186.1:c.3626G>C	XP_016864675.1:p.Gly1209Ala
XM_017009188.1:c.2963G>C	XP_016864677.1:p.Gly988Ala
XM_024454388.1:c.7889G>C	XP_024310156.1:p.Gly2630Ala
XM_024454389.1:c.7478G>C	XP_024310157.1:p.Gly2493Ala
XR_001742034.1:n.8946-3549G>C
XR_001742035.1:n.8946-3549G>C
NM_001369.3:c.8876G>C MANE Select	NP_001360.1:p.Gly2959Ala