Canonical Allele Identifier: CA359190045

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752311C>A (hg19) ; chr5:g.13752202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752202C>A , CM000667.2:g.13752202C>A	GRCh38
NC_000005.9:g.13752311C>A , CM000667.1:g.13752311C>A	GRCh37
NC_000005.8:g.13805311C>A	NCBI36
NG_013081.1:g.197279G>T
NG_013081.2:g.197279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10960G>T MANE Select	ENSP00000265104.4:p.Glu3654Ter
ENST00000681290.1:c.10915G>T	ENSP00000505288.1:p.Glu3639Ter
ENST00000265104.4:c.10960G>T	ENSP00000265104.4:p.Glu3654Ter
NM_001369.2:c.10960G>T	NP_001360.1:p.Glu3654Ter
XM_005248262.2:c.10915G>T	XP_005248319.1:p.Glu3639Ter
XM_005248262.3:c.11068G>T	XP_005248319.2:p.Glu3690Ter
XM_017009177.1:c.11068G>T	XP_016864666.1:p.Glu3690Ter
XM_017009178.1:c.9973G>T	XP_016864667.1:p.Glu3325Ter
XM_017009179.2:c.9973G>T	XP_016864668.1:p.Glu3325Ter
XM_017009180.1:c.11068G>T	XP_016864669.1:p.Glu3690Ter
XM_017009181.1:c.11068G>T	XP_016864670.1:p.Glu3690Ter
XM_017009182.1:c.11068G>T	XP_016864671.1:p.Glu3690Ter
XM_017009185.1:c.6157G>T	XP_016864674.1:p.Glu2053Ter
XM_017009186.1:c.5710G>T	XP_016864675.1:p.Glu1904Ter
XM_017009188.1:c.5047G>T	XP_016864677.1:p.Glu1683Ter
XM_024454388.1:c.9973G>T	XP_024310156.1:p.Glu3325Ter
XM_024454389.1:c.9562G>T	XP_024310157.1:p.Glu3188Ter
NM_001369.3:c.10960G>T MANE Select	NP_001360.1:p.Glu3654Ter