Canonical Allele Identifier: CA359223026

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735310C>A (hg19) ; chr5:g.13735201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735201C>A , CM000667.2:g.13735201C>A	GRCh38
NC_000005.9:g.13735310C>A , CM000667.1:g.13735310C>A	GRCh37
NC_000005.8:g.13788310C>A	NCBI36
NG_013081.1:g.214280G>T
NG_013081.2:g.214280G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11691G>T MANE Select	ENSP00000265104.4:p.Leu3897Phe
ENST00000681290.1:c.11646G>T	ENSP00000505288.1:p.Leu3882Phe
ENST00000265104.4:c.11691G>T	ENSP00000265104.4:p.Leu3897Phe
NM_001369.2:c.11691G>T	NP_001360.1:p.Leu3897Phe
XM_005248262.2:c.11646G>T	XP_005248319.1:p.Leu3882Phe
XM_005248262.3:c.11799G>T	XP_005248319.2:p.Leu3933Phe
XM_017009177.1:c.11799G>T	XP_016864666.1:p.Leu3933Phe
XM_017009178.1:c.10704G>T	XP_016864667.1:p.Leu3568Phe
XM_017009179.2:c.10704G>T	XP_016864668.1:p.Leu3568Phe
XM_017009180.1:c.11799G>T	XP_016864669.1:p.Leu3933Phe
XM_017009181.1:c.11799G>T	XP_016864670.1:p.Leu3933Phe
XM_017009185.1:c.6888G>T	XP_016864674.1:p.Leu2296Phe
XM_017009186.1:c.6441G>T	XP_016864675.1:p.Leu2147Phe
XM_017009188.1:c.5778G>T	XP_016864677.1:p.Leu1926Phe
XM_024454388.1:c.10704G>T	XP_024310156.1:p.Leu3568Phe
XM_024454389.1:c.10293G>T	XP_024310157.1:p.Leu3431Phe
NM_001369.3:c.11691G>T MANE Select	NP_001360.1:p.Leu3897Phe