Canonical Allele Identifier: CA113944232

Gene: DNAH5

Linked Data

• dbSNP Id: rs577898922
• gnomAD v3: 5-13901382-A-G
• gnomAD v4: 5-13901382-A-G
• MyVariant Identifiers: chr5:g.13901491A>G (hg19) ; chr5:g.13901382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901382A>G , CM000667.2:g.13901382A>G	GRCh38
NC_000005.9:g.13901491A>G , CM000667.1:g.13901491A>G	GRCh37
NC_000005.8:g.13954491A>G	NCBI36
NG_013081.1:g.48099T>C
NG_013081.2:g.48099T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.1922T>C MANE Select	ENSP00000265104.4:p.Met641Thr
ENST00000681290.1:c.1877T>C	ENSP00000505288.1:p.Met626Thr
ENST00000265104.4:c.1922T>C	ENSP00000265104.4:p.Met641Thr
NM_001369.2:c.1922T>C	NP_001360.1:p.Met641Thr
XM_005248262.2:c.1877T>C	XP_005248319.1:p.Met626Thr
XM_011513990.1:c.1922T>C	XP_011512292.1:p.Met641Thr
XR_925598.1:n.2129T>C
XM_005248262.3:c.2030T>C	XP_005248319.2:p.Met677Thr
XM_017009177.1:c.2030T>C	XP_016864666.1:p.Met677Thr
XM_017009178.1:c.935T>C	XP_016864667.1:p.Met312Thr
XM_017009179.2:c.935T>C	XP_016864668.1:p.Met312Thr
XM_017009180.1:c.2030T>C	XP_016864669.1:p.Met677Thr
XM_017009181.1:c.2030T>C	XP_016864670.1:p.Met677Thr
XM_017009182.1:c.2030T>C	XP_016864671.1:p.Met677Thr
XM_017009183.1:c.2030T>C	XP_016864672.1:p.Met677Thr
XM_017009184.1:c.2030T>C	XP_016864673.1:p.Met677Thr
XM_017009187.1:c.2030T>C	XP_016864676.1:p.Met677Thr
XM_024454388.1:c.935T>C	XP_024310156.1:p.Met312Thr
XM_024454389.1:c.524T>C	XP_024310157.1:p.Met175Thr
XR_001742034.1:n.2047T>C
XR_001742035.1:n.2047T>C
NM_001369.3:c.1922T>C MANE Select	NP_001360.1:p.Met641Thr