Canonical Allele Identifier: CA359188630

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692167C>A (hg19) ; chr5:g.13692058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692058C>A , CM000667.2:g.13692058C>A	GRCh38
NC_000005.9:g.13692167C>A , CM000667.1:g.13692167C>A	GRCh37
NC_000005.8:g.13745167C>A	NCBI36
NG_013081.1:g.257423G>T
NG_013081.2:g.257423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1134G>T
ENST00000265104.5:c.13801G>T MANE Select	ENSP00000265104.4:p.Val4601Leu
ENST00000681290.1:c.13756G>T	ENSP00000505288.1:p.Val4586Leu
ENST00000265104.4:c.13801G>T	ENSP00000265104.4:p.Val4601Leu
NM_001369.2:c.13801G>T	NP_001360.1:p.Val4601Leu
XM_005248262.2:c.13756G>T	XP_005248319.1:p.Val4586Leu
XM_005248262.3:c.13909G>T	XP_005248319.2:p.Val4637Leu
XM_017009177.1:c.13489G>T	XP_016864666.1:p.Val4497Leu
XM_017009178.1:c.12814G>T	XP_016864667.1:p.Val4272Leu
XM_017009179.2:c.12814G>T	XP_016864668.1:p.Val4272Leu
XM_017009185.1:c.8998G>T	XP_016864674.1:p.Val3000Leu
XM_017009186.1:c.8551G>T	XP_016864675.1:p.Val2851Leu
XM_017009188.1:c.7888G>T	XP_016864677.1:p.Val2630Leu
XM_024454388.1:c.12814G>T	XP_024310156.1:p.Val4272Leu
XM_024454389.1:c.12403G>T	XP_024310157.1:p.Val4135Leu
NM_001369.3:c.13801G>T MANE Select	NP_001360.1:p.Val4601Leu