Canonical Allele Identifier: CA359188490

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692100A>T (hg19) ; chr5:g.13691991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691991A>T , CM000667.2:g.13691991A>T	GRCh38
NC_000005.9:g.13692100A>T , CM000667.1:g.13692100A>T	GRCh37
NC_000005.8:g.13745100A>T	NCBI36
NG_013081.1:g.257490T>A
NG_013081.2:g.257490T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1201T>A
ENST00000265104.5:c.13868T>A MANE Select	ENSP00000265104.4:p.Val4623Asp
ENST00000681290.1:c.13823T>A	ENSP00000505288.1:p.Val4608Asp
ENST00000265104.4:c.13868T>A	ENSP00000265104.4:p.Val4623Asp
NM_001369.2:c.13868T>A	NP_001360.1:p.Val4623Asp
XM_005248262.2:c.13823T>A	XP_005248319.1:p.Val4608Asp
XM_005248262.3:c.13976T>A	XP_005248319.2:p.Val4659Asp
XM_017009177.1:c.13556T>A	XP_016864666.1:p.Val4519Asp
XM_017009178.1:c.12881T>A	XP_016864667.1:p.Val4294Asp
XM_017009179.2:c.12881T>A	XP_016864668.1:p.Val4294Asp
XM_017009185.1:c.9065T>A	XP_016864674.1:p.Val3022Asp
XM_017009186.1:c.8618T>A	XP_016864675.1:p.Val2873Asp
XM_017009188.1:c.7955T>A	XP_016864677.1:p.Val2652Asp
XM_024454388.1:c.12881T>A	XP_024310156.1:p.Val4294Asp
XM_024454389.1:c.12470T>A	XP_024310157.1:p.Val4157Asp
NM_001369.3:c.13868T>A MANE Select	NP_001360.1:p.Val4623Asp