Canonical Allele Identifier: CA359205035

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13901415C>T (hg19) ; chr5:g.13901306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901306C>T , CM000667.2:g.13901306C>T	GRCh38
NC_000005.9:g.13901415C>T , CM000667.1:g.13901415C>T	GRCh37
NC_000005.8:g.13954415C>T	NCBI36
NG_013081.1:g.48175G>A
NG_013081.2:g.48175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1998G>A MANE Select	ENSP00000265104.4:p.Met666Ile
ENST00000681290.1:c.1953G>A	ENSP00000505288.1:p.Met651Ile
ENST00000265104.4:c.1998G>A	ENSP00000265104.4:p.Met666Ile
NM_001369.2:c.1998G>A	NP_001360.1:p.Met666Ile
XM_005248262.2:c.1953G>A	XP_005248319.1:p.Met651Ile
XM_011513990.1:c.1998G>A	XP_011512292.1:p.Met666Ile
XR_925598.1:n.2205G>A
XM_005248262.3:c.2106G>A	XP_005248319.2:p.Met702Ile
XM_017009177.1:c.2106G>A	XP_016864666.1:p.Met702Ile
XM_017009178.1:c.1011G>A	XP_016864667.1:p.Met337Ile
XM_017009179.2:c.1011G>A	XP_016864668.1:p.Met337Ile
XM_017009180.1:c.2106G>A	XP_016864669.1:p.Met702Ile
XM_017009181.1:c.2106G>A	XP_016864670.1:p.Met702Ile
XM_017009182.1:c.2106G>A	XP_016864671.1:p.Met702Ile
XM_017009183.1:c.2106G>A	XP_016864672.1:p.Met702Ile
XM_017009184.1:c.2106G>A	XP_016864673.1:p.Met702Ile
XM_017009187.1:c.2106G>A	XP_016864676.1:p.Met702Ile
XM_024454388.1:c.1011G>A	XP_024310156.1:p.Met337Ile
XM_024454389.1:c.600G>A	XP_024310157.1:p.Met200Ile
XR_001742034.1:n.2123G>A
XR_001742035.1:n.2123G>A
NM_001369.3:c.1998G>A MANE Select	NP_001360.1:p.Met666Ile