Canonical Allele Identifier: CA359190824

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13700783C>A (hg19) ; chr5:g.13700674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13700674C>A , CM000667.2:g.13700674C>A	GRCh38
NC_000005.9:g.13700783C>A , CM000667.1:g.13700783C>A	GRCh37
NC_000005.8:g.13753783C>A	NCBI36
NG_013081.1:g.248807G>T
NG_013081.2:g.248807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1022G>T
ENST00000265104.5:c.13689G>T MANE Select	ENSP00000265104.4:p.Leu4563Phe
ENST00000681290.1:c.13644G>T	ENSP00000505288.1:p.Leu4548Phe
ENST00000265104.4:c.13689G>T	ENSP00000265104.4:p.Leu4563Phe
NM_001369.2:c.13689G>T	NP_001360.1:p.Leu4563Phe
XM_005248262.2:c.13644G>T	XP_005248319.1:p.Leu4548Phe
XM_005248262.3:c.13797G>T	XP_005248319.2:p.Leu4599Phe
XM_017009177.1:c.13377G>T	XP_016864666.1:p.Leu4459Phe
XM_017009178.1:c.12702G>T	XP_016864667.1:p.Leu4234Phe
XM_017009179.2:c.12702G>T	XP_016864668.1:p.Leu4234Phe
XM_017009185.1:c.8886G>T	XP_016864674.1:p.Leu2962Phe
XM_017009186.1:c.8439G>T	XP_016864675.1:p.Leu2813Phe
XM_017009188.1:c.7776G>T	XP_016864677.1:p.Leu2592Phe
XM_024454388.1:c.12702G>T	XP_024310156.1:p.Leu4234Phe
XM_024454389.1:c.12291G>T	XP_024310157.1:p.Leu4097Phe
NM_001369.3:c.13689G>T MANE Select	NP_001360.1:p.Leu4563Phe