Canonical Allele Identifier: CA359188526

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692116C>T (hg19) ; chr5:g.13692007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692007C>T , CM000667.2:g.13692007C>T	GRCh38
NC_000005.9:g.13692116C>T , CM000667.1:g.13692116C>T	GRCh37
NC_000005.8:g.13745116C>T	NCBI36
NG_013081.1:g.257474G>A
NG_013081.2:g.257474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1185G>A
ENST00000265104.5:c.13852G>A MANE Select	ENSP00000265104.4:p.Ala4618Thr
ENST00000681290.1:c.13807G>A	ENSP00000505288.1:p.Ala4603Thr
ENST00000265104.4:c.13852G>A	ENSP00000265104.4:p.Ala4618Thr
NM_001369.2:c.13852G>A	NP_001360.1:p.Ala4618Thr
XM_005248262.2:c.13807G>A	XP_005248319.1:p.Ala4603Thr
XM_005248262.3:c.13960G>A	XP_005248319.2:p.Ala4654Thr
XM_017009177.1:c.13540G>A	XP_016864666.1:p.Ala4514Thr
XM_017009178.1:c.12865G>A	XP_016864667.1:p.Ala4289Thr
XM_017009179.2:c.12865G>A	XP_016864668.1:p.Ala4289Thr
XM_017009185.1:c.9049G>A	XP_016864674.1:p.Ala3017Thr
XM_017009186.1:c.8602G>A	XP_016864675.1:p.Ala2868Thr
XM_017009188.1:c.7939G>A	XP_016864677.1:p.Ala2647Thr
XM_024454388.1:c.12865G>A	XP_024310156.1:p.Ala4289Thr
XM_024454389.1:c.12454G>A	XP_024310157.1:p.Ala4152Thr
NM_001369.3:c.13852G>A MANE Select	NP_001360.1:p.Ala4618Thr