Canonical Allele Identifier: CA359208403

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717615G>T (hg19) ; chr5:g.13717506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717506G>T , CM000667.2:g.13717506G>T	GRCh38
NC_000005.9:g.13717615G>T , CM000667.1:g.13717615G>T	GRCh37
NC_000005.8:g.13770615G>T	NCBI36
NG_013081.1:g.231975C>A
NG_013081.2:g.231975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12514C>A MANE Select	ENSP00000265104.4:p.Leu4172Met
ENST00000681290.1:c.12469C>A	ENSP00000505288.1:p.Leu4157Met
ENST00000265104.4:c.12514C>A	ENSP00000265104.4:p.Leu4172Met
NM_001369.2:c.12514C>A	NP_001360.1:p.Leu4172Met
XM_005248262.2:c.12469C>A	XP_005248319.1:p.Leu4157Met
XM_005248262.3:c.12622C>A	XP_005248319.2:p.Leu4208Met
XM_017009177.1:c.12622C>A	XP_016864666.1:p.Leu4208Met
XM_017009178.1:c.11527C>A	XP_016864667.1:p.Leu3843Met
XM_017009179.2:c.11527C>A	XP_016864668.1:p.Leu3843Met
XM_017009180.1:c.12622C>A	XP_016864669.1:p.Leu4208Met
XM_017009185.1:c.7711C>A	XP_016864674.1:p.Leu2571Met
XM_017009186.1:c.7264C>A	XP_016864675.1:p.Leu2422Met
XM_017009188.1:c.6601C>A	XP_016864677.1:p.Leu2201Met
XM_024454388.1:c.11527C>A	XP_024310156.1:p.Leu3843Met
XM_024454389.1:c.11116C>A	XP_024310157.1:p.Leu3706Met
NM_001369.3:c.12514C>A MANE Select	NP_001360.1:p.Leu4172Met