Canonical Allele Identifier: CA359205963

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717432C>T (hg19) ; chr5:g.13717323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717323C>T , CM000667.2:g.13717323C>T	GRCh38
NC_000005.9:g.13717432C>T , CM000667.1:g.13717432C>T	GRCh37
NC_000005.8:g.13770432C>T	NCBI36
NG_013081.1:g.232158G>A
NG_013081.2:g.232158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12697G>A MANE Select	ENSP00000265104.4:p.Val4233Ile
ENST00000681290.1:c.12652G>A	ENSP00000505288.1:p.Val4218Ile
ENST00000265104.4:c.12697G>A	ENSP00000265104.4:p.Val4233Ile
NM_001369.2:c.12697G>A	NP_001360.1:p.Val4233Ile
XM_005248262.2:c.12652G>A	XP_005248319.1:p.Val4218Ile
XM_005248262.3:c.12805G>A	XP_005248319.2:p.Val4269Ile
XM_017009177.1:c.12805G>A	XP_016864666.1:p.Val4269Ile
XM_017009178.1:c.11710G>A	XP_016864667.1:p.Val3904Ile
XM_017009179.2:c.11710G>A	XP_016864668.1:p.Val3904Ile
XM_017009180.1:c.12805G>A	XP_016864669.1:p.Val4269Ile
XM_017009185.1:c.7894G>A	XP_016864674.1:p.Val2632Ile
XM_017009186.1:c.7447G>A	XP_016864675.1:p.Val2483Ile
XM_017009188.1:c.6784G>A	XP_016864677.1:p.Val2262Ile
XM_024454388.1:c.11710G>A	XP_024310156.1:p.Val3904Ile
XM_024454389.1:c.11299G>A	XP_024310157.1:p.Val3767Ile
NM_001369.3:c.12697G>A MANE Select	NP_001360.1:p.Val4233Ile