Canonical Allele Identifier: CA443251086

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708286C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708177C>A , CM000667.2:g.13708177C>A	GRCh38
NC_000005.9:g.13708286C>A , CM000667.1:g.13708286C>A	GRCh37
NC_000005.8:g.13761286C>A	NCBI36
NG_013081.1:g.241304G>T
NG_013081.2:g.241304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.617G>T
ENST00000265104.5:c.13284G>T MANE Select	ENSP00000265104.4:p.Leu4428=
ENST00000681290.1:c.13239G>T	ENSP00000505288.1:p.Leu4413=
ENST00000265104.4:c.13284G>T	ENSP00000265104.4:p.Leu4428=
NM_001369.2:c.13284G>T	NP_001360.1:p.Leu4428=
XM_005248262.2:c.13239G>T	XP_005248319.1:p.Leu4413=
XM_005248262.3:c.13392G>T	XP_005248319.2:p.Leu4464=
XM_017009177.1:c.12972G>T	XP_016864666.1:p.Leu4324=
XM_017009178.1:c.12297G>T	XP_016864667.1:p.Leu4099=
XM_017009179.2:c.12297G>T	XP_016864668.1:p.Leu4099=
XM_017009185.1:c.8481G>T	XP_016864674.1:p.Leu2827=
XM_017009186.1:c.8034G>T	XP_016864675.1:p.Leu2678=
XM_017009188.1:c.7371G>T	XP_016864677.1:p.Leu2457=
XM_024454388.1:c.12297G>T	XP_024310156.1:p.Leu4099=
XM_024454389.1:c.11886G>T	XP_024310157.1:p.Leu3962=
NM_001369.3:c.13284G>T MANE Select	NP_001360.1:p.Leu4428=