Canonical Allele Identifier: CA359192805

Gene: DNAH5

Linked Data

• dbSNP Id: rs1301152505
• gnomAD v2: 5-13701460-C-T
• gnomAD v4: 5-13701351-C-T
• MyVariant Identifiers: chr5:g.13701460C>T (hg19) ; chr5:g.13701351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701351C>T , CM000667.2:g.13701351C>T	GRCh38
NC_000005.9:g.13701460C>T , CM000667.1:g.13701460C>T	GRCh37
NC_000005.8:g.13754460C>T	NCBI36
NG_013081.1:g.248130G>A
NG_013081.2:g.248130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.757G>A
ENST00000265104.5:c.13424G>A MANE Select	ENSP00000265104.4:p.Gly4475Asp
ENST00000681290.1:c.13379G>A	ENSP00000505288.1:p.Gly4460Asp
ENST00000265104.4:c.13424G>A	ENSP00000265104.4:p.Gly4475Asp
NM_001369.2:c.13424G>A	NP_001360.1:p.Gly4475Asp
XM_005248262.2:c.13379G>A	XP_005248319.1:p.Gly4460Asp
XM_005248262.3:c.13532G>A	XP_005248319.2:p.Gly4511Asp
XM_017009177.1:c.13112G>A	XP_016864666.1:p.Gly4371Asp
XM_017009178.1:c.12437G>A	XP_016864667.1:p.Gly4146Asp
XM_017009179.2:c.12437G>A	XP_016864668.1:p.Gly4146Asp
XM_017009185.1:c.8621G>A	XP_016864674.1:p.Gly2874Asp
XM_017009186.1:c.8174G>A	XP_016864675.1:p.Gly2725Asp
XM_017009188.1:c.7511G>A	XP_016864677.1:p.Gly2504Asp
XM_024454388.1:c.12437G>A	XP_024310156.1:p.Gly4146Asp
XM_024454389.1:c.12026G>A	XP_024310157.1:p.Gly4009Asp
NM_001369.3:c.13424G>A MANE Select	NP_001360.1:p.Gly4475Asp