Canonical Allele Identifier: CA359197391

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708363C>A (hg19) ; chr5:g.13708254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708254C>A , CM000667.2:g.13708254C>A	GRCh38
NC_000005.9:g.13708363C>A , CM000667.1:g.13708363C>A	GRCh37
NC_000005.8:g.13761363C>A	NCBI36
NG_013081.1:g.241227G>T
NG_013081.2:g.241227G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.540G>T
ENST00000265104.5:c.13207G>T MANE Select	ENSP00000265104.4:p.Val4403Leu
ENST00000681290.1:c.13162G>T	ENSP00000505288.1:p.Val4388Leu
ENST00000265104.4:c.13207G>T	ENSP00000265104.4:p.Val4403Leu
NM_001369.2:c.13207G>T	NP_001360.1:p.Val4403Leu
XM_005248262.2:c.13162G>T	XP_005248319.1:p.Val4388Leu
XM_005248262.3:c.13315G>T	XP_005248319.2:p.Val4439Leu
XM_017009177.1:c.12895G>T	XP_016864666.1:p.Val4299Leu
XM_017009178.1:c.12220G>T	XP_016864667.1:p.Val4074Leu
XM_017009179.2:c.12220G>T	XP_016864668.1:p.Val4074Leu
XM_017009185.1:c.8404G>T	XP_016864674.1:p.Val2802Leu
XM_017009186.1:c.7957G>T	XP_016864675.1:p.Val2653Leu
XM_017009188.1:c.7294G>T	XP_016864677.1:p.Val2432Leu
XM_024454388.1:c.12220G>T	XP_024310156.1:p.Val4074Leu
XM_024454389.1:c.11809G>T	XP_024310157.1:p.Val3937Leu
NM_001369.3:c.13207G>T MANE Select	NP_001360.1:p.Val4403Leu