Canonical Allele Identifier: CA359206776

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717376-G-T
• MyVariant Identifiers: chr5:g.13717485G>T (hg19) ; chr5:g.13717376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717376G>T , CM000667.2:g.13717376G>T	GRCh38
NC_000005.9:g.13717485G>T , CM000667.1:g.13717485G>T	GRCh37
NC_000005.8:g.13770485G>T	NCBI36
NG_013081.1:g.232105C>A
NG_013081.2:g.232105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12644C>A MANE Select	ENSP00000265104.4:p.Ala4215Glu
ENST00000681290.1:c.12599C>A	ENSP00000505288.1:p.Ala4200Glu
ENST00000265104.4:c.12644C>A	ENSP00000265104.4:p.Ala4215Glu
NM_001369.2:c.12644C>A	NP_001360.1:p.Ala4215Glu
XM_005248262.2:c.12599C>A	XP_005248319.1:p.Ala4200Glu
XM_005248262.3:c.12752C>A	XP_005248319.2:p.Ala4251Glu
XM_017009177.1:c.12752C>A	XP_016864666.1:p.Ala4251Glu
XM_017009178.1:c.11657C>A	XP_016864667.1:p.Ala3886Glu
XM_017009179.2:c.11657C>A	XP_016864668.1:p.Ala3886Glu
XM_017009180.1:c.12752C>A	XP_016864669.1:p.Ala4251Glu
XM_017009185.1:c.7841C>A	XP_016864674.1:p.Ala2614Glu
XM_017009186.1:c.7394C>A	XP_016864675.1:p.Ala2465Glu
XM_017009188.1:c.6731C>A	XP_016864677.1:p.Ala2244Glu
XM_024454388.1:c.11657C>A	XP_024310156.1:p.Ala3886Glu
XM_024454389.1:c.11246C>A	XP_024310157.1:p.Ala3749Glu
NM_001369.3:c.12644C>A MANE Select	NP_001360.1:p.Ala4215Glu