Canonical Allele Identifier: CA359199285

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13829511-T-G
• MyVariant Identifiers: chr5:g.13829620T>G (hg19) ; chr5:g.13829511T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829511T>G , CM000667.2:g.13829511T>G	GRCh38
NC_000005.9:g.13829620T>G , CM000667.1:g.13829620T>G	GRCh37
NC_000005.8:g.13882620T>G	NCBI36
NG_013081.1:g.119970A>C
NG_013081.2:g.119970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1374A>C
ENST00000265104.5:c.6443A>C MANE Select	ENSP00000265104.4:p.Gln2148Pro
ENST00000681290.1:c.6398A>C	ENSP00000505288.1:p.Gln2133Pro
ENST00000265104.4:c.6443A>C	ENSP00000265104.4:p.Gln2148Pro
NM_001369.2:c.6443A>C	NP_001360.1:p.Gln2148Pro
XM_005248262.2:c.6398A>C	XP_005248319.1:p.Gln2133Pro
XM_011513990.1:c.6443A>C	XP_011512292.1:p.Gln2148Pro
XR_925598.1:n.6650A>C
XM_005248262.3:c.6551A>C	XP_005248319.2:p.Gln2184Pro
XM_017009177.1:c.6551A>C	XP_016864666.1:p.Gln2184Pro
XM_017009178.1:c.5456A>C	XP_016864667.1:p.Gln1819Pro
XM_017009179.2:c.5456A>C	XP_016864668.1:p.Gln1819Pro
XM_017009180.1:c.6551A>C	XP_016864669.1:p.Gln2184Pro
XM_017009181.1:c.6551A>C	XP_016864670.1:p.Gln2184Pro
XM_017009182.1:c.6551A>C	XP_016864671.1:p.Gln2184Pro
XM_017009183.1:c.6551A>C	XP_016864672.1:p.Gln2184Pro
XM_017009184.1:c.6551A>C	XP_016864673.1:p.Gln2184Pro
XM_017009185.1:c.1640A>C	XP_016864674.1:p.Gln547Pro
XM_017009186.1:c.1193A>C	XP_016864675.1:p.Gln398Pro
XM_017009187.1:c.6551A>C	XP_016864676.1:p.Gln2184Pro
XM_017009188.1:c.530A>C	XP_016864677.1:p.Gln177Pro
XM_024454388.1:c.5456A>C	XP_024310156.1:p.Gln1819Pro
XM_024454389.1:c.5045A>C	XP_024310157.1:p.Gln1682Pro
XR_001742034.1:n.6568A>C
XR_001742035.1:n.6568A>C
NM_001369.3:c.6443A>C MANE Select	NP_001360.1:p.Gln2148Pro