Canonical Allele Identifier: CA359188653

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692179A>C (hg19) ; chr5:g.13692070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692070A>C , CM000667.2:g.13692070A>C	GRCh38
NC_000005.9:g.13692179A>C , CM000667.1:g.13692179A>C	GRCh37
NC_000005.8:g.13745179A>C	NCBI36
NG_013081.1:g.257411T>G
NG_013081.2:g.257411T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1122T>G
ENST00000265104.5:c.13789T>G MANE Select	ENSP00000265104.4:p.Tyr4597Asp
ENST00000681290.1:c.13744T>G	ENSP00000505288.1:p.Tyr4582Asp
ENST00000265104.4:c.13789T>G	ENSP00000265104.4:p.Tyr4597Asp
NM_001369.2:c.13789T>G	NP_001360.1:p.Tyr4597Asp
XM_005248262.2:c.13744T>G	XP_005248319.1:p.Tyr4582Asp
XM_005248262.3:c.13897T>G	XP_005248319.2:p.Tyr4633Asp
XM_017009177.1:c.13477T>G	XP_016864666.1:p.Tyr4493Asp
XM_017009178.1:c.12802T>G	XP_016864667.1:p.Tyr4268Asp
XM_017009179.2:c.12802T>G	XP_016864668.1:p.Tyr4268Asp
XM_017009185.1:c.8986T>G	XP_016864674.1:p.Tyr2996Asp
XM_017009186.1:c.8539T>G	XP_016864675.1:p.Tyr2847Asp
XM_017009188.1:c.7876T>G	XP_016864677.1:p.Tyr2626Asp
XM_024454388.1:c.12802T>G	XP_024310156.1:p.Tyr4268Asp
XM_024454389.1:c.12391T>G	XP_024310157.1:p.Tyr4131Asp
NM_001369.3:c.13789T>G MANE Select	NP_001360.1:p.Tyr4597Asp