Canonical Allele Identifier: CA359188636

Gene: DNAH5

Linked Data

• dbSNP Id: rs1740764170
• gnomAD v4: 5-13692063-G-A
• MyVariant Identifiers: chr5:g.13692172G>A (hg19) ; chr5:g.13692063G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1129C>T
ENST00000265104.5:c.13796C>T MANE Select	ENSP00000265104.4:p.Ala4599Val
ENST00000681290.1:c.13751C>T	ENSP00000505288.1:p.Ala4584Val
ENST00000265104.4:c.13796C>T	ENSP00000265104.4:p.Ala4599Val
NM_001369.2:c.13796C>T	NP_001360.1:p.Ala4599Val
XM_005248262.2:c.13751C>T	XP_005248319.1:p.Ala4584Val
XM_005248262.3:c.13904C>T	XP_005248319.2:p.Ala4635Val
XM_017009177.1:c.13484C>T	XP_016864666.1:p.Ala4495Val
XM_017009178.1:c.12809C>T	XP_016864667.1:p.Ala4270Val
XM_017009179.2:c.12809C>T	XP_016864668.1:p.Ala4270Val
XM_017009185.1:c.8993C>T	XP_016864674.1:p.Ala2998Val
XM_017009186.1:c.8546C>T	XP_016864675.1:p.Ala2849Val
XM_017009188.1:c.7883C>T	XP_016864677.1:p.Ala2628Val
XM_024454388.1:c.12809C>T	XP_024310156.1:p.Ala4270Val
XM_024454389.1:c.12398C>T	XP_024310157.1:p.Ala4133Val
NM_001369.3:c.13796C>T MANE Select	NP_001360.1:p.Ala4599Val