Canonical Allele Identifier: CA359214079

Gene: DNAH5

Linked Data

• dbSNP Id: rs1765759100
• gnomAD v3: 5-13844904-G-T
• gnomAD v4: 5-13844904-G-T
• MyVariant Identifiers: chr5:g.13845013G>T (hg19) ; chr5:g.13844904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844904G>T , CM000667.2:g.13844904G>T	GRCh38
NC_000005.9:g.13845013G>T , CM000667.1:g.13845013G>T	GRCh37
NC_000005.8:g.13898013G>T	NCBI36
NG_013081.1:g.104577C>A
NG_013081.2:g.104577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5204C>A MANE Select	ENSP00000265104.4:p.Ser1735Tyr
ENST00000681290.1:c.5159C>A	ENSP00000505288.1:p.Ser1720Tyr
ENST00000265104.4:c.5204C>A	ENSP00000265104.4:p.Ser1735Tyr
NM_001369.2:c.5204C>A	NP_001360.1:p.Ser1735Tyr
XM_005248262.2:c.5159C>A	XP_005248319.1:p.Ser1720Tyr
XM_011513990.1:c.5204C>A	XP_011512292.1:p.Ser1735Tyr
XR_925598.1:n.5411C>A
XM_005248262.3:c.5312C>A	XP_005248319.2:p.Ser1771Tyr
XM_017009177.1:c.5312C>A	XP_016864666.1:p.Ser1771Tyr
XM_017009178.1:c.4217C>A	XP_016864667.1:p.Ser1406Tyr
XM_017009179.2:c.4217C>A	XP_016864668.1:p.Ser1406Tyr
XM_017009180.1:c.5312C>A	XP_016864669.1:p.Ser1771Tyr
XM_017009181.1:c.5312C>A	XP_016864670.1:p.Ser1771Tyr
XM_017009182.1:c.5312C>A	XP_016864671.1:p.Ser1771Tyr
XM_017009183.1:c.5312C>A	XP_016864672.1:p.Ser1771Tyr
XM_017009184.1:c.5312C>A	XP_016864673.1:p.Ser1771Tyr
XM_017009185.1:c.401C>A	XP_016864674.1:p.Ser134Tyr
XM_017009186.1:c.22-3000C>A	XP_016864675.1:n.22-3000C>A
XM_017009187.1:c.5312C>A	XP_016864676.1:p.Ser1771Tyr
XM_024454388.1:c.4217C>A	XP_024310156.1:p.Ser1406Tyr
XM_024454389.1:c.3806C>A	XP_024310157.1:p.Ser1269Tyr
XR_001742034.1:n.5329C>A
XR_001742035.1:n.5329C>A
NM_001369.3:c.5204C>A MANE Select	NP_001360.1:p.Ser1735Tyr