Canonical Allele Identifier: CA359199978

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13829577-T-A
• MyVariant Identifiers: chr5:g.13829686T>A (hg19) ; chr5:g.13829577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829577T>A , CM000667.2:g.13829577T>A	GRCh38
NC_000005.9:g.13829686T>A , CM000667.1:g.13829686T>A	GRCh37
NC_000005.8:g.13882686T>A	NCBI36
NG_013081.1:g.119904A>T
NG_013081.2:g.119904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1308A>T
ENST00000265104.5:c.6377A>T MANE Select	ENSP00000265104.4:p.Asp2126Val
ENST00000681290.1:c.6332A>T	ENSP00000505288.1:p.Asp2111Val
ENST00000265104.4:c.6377A>T	ENSP00000265104.4:p.Asp2126Val
NM_001369.2:c.6377A>T	NP_001360.1:p.Asp2126Val
XM_005248262.2:c.6332A>T	XP_005248319.1:p.Asp2111Val
XM_011513990.1:c.6377A>T	XP_011512292.1:p.Asp2126Val
XR_925598.1:n.6584A>T
XM_005248262.3:c.6485A>T	XP_005248319.2:p.Asp2162Val
XM_017009177.1:c.6485A>T	XP_016864666.1:p.Asp2162Val
XM_017009178.1:c.5390A>T	XP_016864667.1:p.Asp1797Val
XM_017009179.2:c.5390A>T	XP_016864668.1:p.Asp1797Val
XM_017009180.1:c.6485A>T	XP_016864669.1:p.Asp2162Val
XM_017009181.1:c.6485A>T	XP_016864670.1:p.Asp2162Val
XM_017009182.1:c.6485A>T	XP_016864671.1:p.Asp2162Val
XM_017009183.1:c.6485A>T	XP_016864672.1:p.Asp2162Val
XM_017009184.1:c.6485A>T	XP_016864673.1:p.Asp2162Val
XM_017009185.1:c.1574A>T	XP_016864674.1:p.Asp525Val
XM_017009186.1:c.1127A>T	XP_016864675.1:p.Asp376Val
XM_017009187.1:c.6485A>T	XP_016864676.1:p.Asp2162Val
XM_017009188.1:c.464A>T	XP_016864677.1:p.Asp155Val
XM_024454388.1:c.5390A>T	XP_024310156.1:p.Asp1797Val
XM_024454389.1:c.4979A>T	XP_024310157.1:p.Asp1660Val
XR_001742034.1:n.6502A>T
XR_001742035.1:n.6502A>T
NM_001369.3:c.6377A>T MANE Select	NP_001360.1:p.Asp2126Val