Canonical Allele Identifier: CA359205348

Gene: DNAH5

Linked Data

• dbSNP Id: rs756063580
• gnomAD v2: 5-13771072-T-C
• gnomAD v4: 5-13770963-T-C
• MyVariant Identifiers: chr5:g.13771072T>C (hg19) ; chr5:g.13770963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770963T>C , CM000667.2:g.13770963T>C	GRCh38
NC_000005.9:g.13771072T>C , CM000667.1:g.13771072T>C	GRCh37
NC_000005.8:g.13824072T>C	NCBI36
NG_013081.1:g.178518A>G
NG_013081.2:g.178518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9391A>G MANE Select	ENSP00000265104.4:p.Thr3131Ala
ENST00000681290.1:c.9346A>G	ENSP00000505288.1:p.Thr3116Ala
ENST00000265104.4:c.9391A>G	ENSP00000265104.4:p.Thr3131Ala
ENST00000504001.3:n.103A>G
NM_001369.2:c.9391A>G	NP_001360.1:p.Thr3131Ala
XM_005248262.2:c.9346A>G	XP_005248319.1:p.Thr3116Ala
XM_005248262.3:c.9499A>G	XP_005248319.2:p.Thr3167Ala
XM_017009177.1:c.9499A>G	XP_016864666.1:p.Thr3167Ala
XM_017009178.1:c.8404A>G	XP_016864667.1:p.Thr2802Ala
XM_017009179.2:c.8404A>G	XP_016864668.1:p.Thr2802Ala
XM_017009180.1:c.9499A>G	XP_016864669.1:p.Thr3167Ala
XM_017009181.1:c.9499A>G	XP_016864670.1:p.Thr3167Ala
XM_017009182.1:c.9499A>G	XP_016864671.1:p.Thr3167Ala
XM_017009183.1:c.9499A>G	XP_016864672.1:p.Thr3167Ala
XM_017009185.1:c.4588A>G	XP_016864674.1:p.Thr1530Ala
XM_017009186.1:c.4141A>G	XP_016864675.1:p.Thr1381Ala
XM_017009188.1:c.3478A>G	XP_016864677.1:p.Thr1160Ala
XM_024454388.1:c.8404A>G	XP_024310156.1:p.Thr2802Ala
XM_024454389.1:c.7993A>G	XP_024310157.1:p.Thr2665Ala
NM_001369.3:c.9391A>G MANE Select	NP_001360.1:p.Thr3131Ala