Canonical Allele Identifier: CA359191776

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750534241
• MyVariant Identifiers: chr5:g.13753527G>T (hg19) ; chr5:g.13753418G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753418G>T , CM000667.2:g.13753418G>T	GRCh38
NC_000005.9:g.13753527G>T , CM000667.1:g.13753527G>T	GRCh37
NC_000005.8:g.13806527G>T	NCBI36
NG_013081.1:g.196063C>A
NG_013081.2:g.196063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10687C>A MANE Select	ENSP00000265104.4:p.Leu3563Ile
ENST00000681290.1:c.10642C>A	ENSP00000505288.1:p.Leu3548Ile
ENST00000265104.4:c.10687C>A	ENSP00000265104.4:p.Leu3563Ile
NM_001369.2:c.10687C>A	NP_001360.1:p.Leu3563Ile
XM_005248262.2:c.10642C>A	XP_005248319.1:p.Leu3548Ile
XM_005248262.3:c.10795C>A	XP_005248319.2:p.Leu3599Ile
XM_017009177.1:c.10795C>A	XP_016864666.1:p.Leu3599Ile
XM_017009178.1:c.9700C>A	XP_016864667.1:p.Leu3234Ile
XM_017009179.2:c.9700C>A	XP_016864668.1:p.Leu3234Ile
XM_017009180.1:c.10795C>A	XP_016864669.1:p.Leu3599Ile
XM_017009181.1:c.10795C>A	XP_016864670.1:p.Leu3599Ile
XM_017009182.1:c.10795C>A	XP_016864671.1:p.Leu3599Ile
XM_017009185.1:c.5884C>A	XP_016864674.1:p.Leu1962Ile
XM_017009186.1:c.5437C>A	XP_016864675.1:p.Leu1813Ile
XM_017009188.1:c.4774C>A	XP_016864677.1:p.Leu1592Ile
XM_024454388.1:c.9700C>A	XP_024310156.1:p.Leu3234Ile
XM_024454389.1:c.9289C>A	XP_024310157.1:p.Leu3097Ile
NM_001369.3:c.10687C>A MANE Select	NP_001360.1:p.Leu3563Ile