Canonical Allele Identifier: CA359190475

Gene: DNAH5

Linked Data

• dbSNP Id: rs1483774060
• gnomAD v2: 5-13752375-G-T
• gnomAD v4: 5-13752266-G-T
• MyVariant Identifiers: chr5:g.13752375G>T (hg19) ; chr5:g.13752266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752266G>T , CM000667.2:g.13752266G>T	GRCh38
NC_000005.9:g.13752375G>T , CM000667.1:g.13752375G>T	GRCh37
NC_000005.8:g.13805375G>T	NCBI36
NG_013081.1:g.197215C>A
NG_013081.2:g.197215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10896C>A MANE Select	ENSP00000265104.4:p.Tyr3632Ter
ENST00000681290.1:c.10851C>A	ENSP00000505288.1:p.Tyr3617Ter
ENST00000265104.4:c.10896C>A	ENSP00000265104.4:p.Tyr3632Ter
NM_001369.2:c.10896C>A	NP_001360.1:p.Tyr3632Ter
XM_005248262.2:c.10851C>A	XP_005248319.1:p.Tyr3617Ter
XM_005248262.3:c.11004C>A	XP_005248319.2:p.Tyr3668Ter
XM_017009177.1:c.11004C>A	XP_016864666.1:p.Tyr3668Ter
XM_017009178.1:c.9909C>A	XP_016864667.1:p.Tyr3303Ter
XM_017009179.2:c.9909C>A	XP_016864668.1:p.Tyr3303Ter
XM_017009180.1:c.11004C>A	XP_016864669.1:p.Tyr3668Ter
XM_017009181.1:c.11004C>A	XP_016864670.1:p.Tyr3668Ter
XM_017009182.1:c.11004C>A	XP_016864671.1:p.Tyr3668Ter
XM_017009185.1:c.6093C>A	XP_016864674.1:p.Tyr2031Ter
XM_017009186.1:c.5646C>A	XP_016864675.1:p.Tyr1882Ter
XM_017009188.1:c.4983C>A	XP_016864677.1:p.Tyr1661Ter
XM_024454388.1:c.9909C>A	XP_024310156.1:p.Tyr3303Ter
XM_024454389.1:c.9498C>A	XP_024310157.1:p.Tyr3166Ter
NM_001369.3:c.10896C>A MANE Select	NP_001360.1:p.Tyr3632Ter