Canonical Allele Identifier: CA359188637

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692172G>T (hg19) ; chr5:g.13692063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692063G>T , CM000667.2:g.13692063G>T	GRCh38
NC_000005.9:g.13692172G>T , CM000667.1:g.13692172G>T	GRCh37
NC_000005.8:g.13745172G>T	NCBI36
NG_013081.1:g.257418C>A
NG_013081.2:g.257418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1129C>A
ENST00000265104.5:c.13796C>A MANE Select	ENSP00000265104.4:p.Ala4599Asp
ENST00000681290.1:c.13751C>A	ENSP00000505288.1:p.Ala4584Asp
ENST00000265104.4:c.13796C>A	ENSP00000265104.4:p.Ala4599Asp
NM_001369.2:c.13796C>A	NP_001360.1:p.Ala4599Asp
XM_005248262.2:c.13751C>A	XP_005248319.1:p.Ala4584Asp
XM_005248262.3:c.13904C>A	XP_005248319.2:p.Ala4635Asp
XM_017009177.1:c.13484C>A	XP_016864666.1:p.Ala4495Asp
XM_017009178.1:c.12809C>A	XP_016864667.1:p.Ala4270Asp
XM_017009179.2:c.12809C>A	XP_016864668.1:p.Ala4270Asp
XM_017009185.1:c.8993C>A	XP_016864674.1:p.Ala2998Asp
XM_017009186.1:c.8546C>A	XP_016864675.1:p.Ala2849Asp
XM_017009188.1:c.7883C>A	XP_016864677.1:p.Ala2628Asp
XM_024454388.1:c.12809C>A	XP_024310156.1:p.Ala4270Asp
XM_024454389.1:c.12398C>A	XP_024310157.1:p.Ala4133Asp
NM_001369.3:c.13796C>A MANE Select	NP_001360.1:p.Ala4599Asp