Canonical Allele Identifier: CA359188489

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1201T>G
ENST00000265104.5:c.13868T>G MANE Select	ENSP00000265104.4:p.Val4623Gly
ENST00000681290.1:c.13823T>G	ENSP00000505288.1:p.Val4608Gly
ENST00000265104.4:c.13868T>G	ENSP00000265104.4:p.Val4623Gly
NM_001369.2:c.13868T>G	NP_001360.1:p.Val4623Gly
XM_005248262.2:c.13823T>G	XP_005248319.1:p.Val4608Gly
XM_005248262.3:c.13976T>G	XP_005248319.2:p.Val4659Gly
XM_017009177.1:c.13556T>G	XP_016864666.1:p.Val4519Gly
XM_017009178.1:c.12881T>G	XP_016864667.1:p.Val4294Gly
XM_017009179.2:c.12881T>G	XP_016864668.1:p.Val4294Gly
XM_017009185.1:c.9065T>G	XP_016864674.1:p.Val3022Gly
XM_017009186.1:c.8618T>G	XP_016864675.1:p.Val2873Gly
XM_017009188.1:c.7955T>G	XP_016864677.1:p.Val2652Gly
XM_024454388.1:c.12881T>G	XP_024310156.1:p.Val4294Gly
XM_024454389.1:c.12470T>G	XP_024310157.1:p.Val4157Gly
NM_001369.3:c.13868T>G MANE Select	NP_001360.1:p.Val4623Gly