Canonical Allele Identifier: CA359188537

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692124C>A (hg19) ; chr5:g.13692015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692015C>A , CM000667.2:g.13692015C>A	GRCh38
NC_000005.9:g.13692124C>A , CM000667.1:g.13692124C>A	GRCh37
NC_000005.8:g.13745124C>A	NCBI36
NG_013081.1:g.257466G>T
NG_013081.2:g.257466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1177G>T
ENST00000265104.5:c.13844G>T MANE Select	ENSP00000265104.4:p.Arg4615Leu
ENST00000681290.1:c.13799G>T	ENSP00000505288.1:p.Arg4600Leu
ENST00000265104.4:c.13844G>T	ENSP00000265104.4:p.Arg4615Leu
NM_001369.2:c.13844G>T	NP_001360.1:p.Arg4615Leu
XM_005248262.2:c.13799G>T	XP_005248319.1:p.Arg4600Leu
XM_005248262.3:c.13952G>T	XP_005248319.2:p.Arg4651Leu
XM_017009177.1:c.13532G>T	XP_016864666.1:p.Arg4511Leu
XM_017009178.1:c.12857G>T	XP_016864667.1:p.Arg4286Leu
XM_017009179.2:c.12857G>T	XP_016864668.1:p.Arg4286Leu
XM_017009185.1:c.9041G>T	XP_016864674.1:p.Arg3014Leu
XM_017009186.1:c.8594G>T	XP_016864675.1:p.Arg2865Leu
XM_017009188.1:c.7931G>T	XP_016864677.1:p.Arg2644Leu
XM_024454388.1:c.12857G>T	XP_024310156.1:p.Arg4286Leu
XM_024454389.1:c.12446G>T	XP_024310157.1:p.Arg4149Leu
NM_001369.3:c.13844G>T MANE Select	NP_001360.1:p.Arg4615Leu