Canonical Allele Identifier: CA113932806

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2630632
• ClinVar RCV Id: RCV003391418
• dbSNP Id: rs974357356
• gnomAD v4: 5-13770800-T-C
• MyVariant Identifiers: chr5:g.13770909T>C (hg19) ; chr5:g.13770800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770800T>C , CM000667.2:g.13770800T>C	GRCh38
NC_000005.9:g.13770909T>C , CM000667.1:g.13770909T>C	GRCh37
NC_000005.8:g.13823909T>C	NCBI36
NG_013081.1:g.178681A>G
NG_013081.2:g.178681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9554A>G MANE Select	ENSP00000265104.4:p.Tyr3185Cys
ENST00000681290.1:c.9509A>G	ENSP00000505288.1:p.Tyr3170Cys
ENST00000265104.4:c.9554A>G	ENSP00000265104.4:p.Tyr3185Cys
ENST00000504001.3:n.266A>G
NM_001369.2:c.9554A>G	NP_001360.1:p.Tyr3185Cys
XM_005248262.2:c.9509A>G	XP_005248319.1:p.Tyr3170Cys
XM_005248262.3:c.9662A>G	XP_005248319.2:p.Tyr3221Cys
XM_017009177.1:c.9662A>G	XP_016864666.1:p.Tyr3221Cys
XM_017009178.1:c.8567A>G	XP_016864667.1:p.Tyr2856Cys
XM_017009179.2:c.8567A>G	XP_016864668.1:p.Tyr2856Cys
XM_017009180.1:c.9662A>G	XP_016864669.1:p.Tyr3221Cys
XM_017009181.1:c.9662A>G	XP_016864670.1:p.Tyr3221Cys
XM_017009182.1:c.9662A>G	XP_016864671.1:p.Tyr3221Cys
XM_017009183.1:c.9662A>G	XP_016864672.1:p.Tyr3221Cys
XM_017009185.1:c.4751A>G	XP_016864674.1:p.Tyr1584Cys
XM_017009186.1:c.4304A>G	XP_016864675.1:p.Tyr1435Cys
XM_017009188.1:c.3641A>G	XP_016864677.1:p.Tyr1214Cys
XM_024454388.1:c.8567A>G	XP_024310156.1:p.Tyr2856Cys
XM_024454389.1:c.8156A>G	XP_024310157.1:p.Tyr2719Cys
NM_001369.3:c.9554A>G MANE Select	NP_001360.1:p.Tyr3185Cys