Canonical Allele Identifier: CA5033876

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34459045C>T , CM000671.2:g.34459045C>T	GRCh38
NC_000009.11:g.34459043C>T , CM000671.1:g.34459043C>T	GRCh37
NC_000009.10:g.34449043C>T	NCBI36
NG_008127.1:g.5233C>T
NG_027971.1:g.4526G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.40C>T MANE Select	NP_036276.1:p.His14Tyr
ENST00000242317.9:c.40C>T MANE Select	ENSP00000242317.4:p.His14Tyr
NM_001281428.1:c.40C>T	NP_001268357.1:p.His14Tyr
NM_001281428.2:c.40C>T	NP_001268357.1:p.His14Tyr
NM_012144.3:c.40C>T	NP_036276.1:p.His14Tyr
ENST00000242317.8:c.40C>T	ENSP00000242317.4:p.His14Tyr
ENST00000437363.5:c.40C>T	ENSP00000395396.1:p.His14Tyr
ENST00000470982.5:n.47+1585C>T
ENST00000614641.4:c.40C>T	ENSP00000480538.1:p.His14Tyr
XM_011517846.1:c.40C>T	XP_011516148.1:p.His14Tyr
XM_011517846.2:c.40C>T	XP_011516148.1:p.His14Tyr
XM_011517847.1:c.40C>T	XP_011516149.1:p.His14Tyr
XM_011517847.3:c.40C>T	XP_011516149.1:p.His14Tyr
XM_011517848.1:c.40C>T	XP_011516150.1:p.His14Tyr
XM_011517848.2:c.40C>T	XP_011516150.1:p.His14Tyr
XM_011517849.1:c.40C>T	XP_011516151.1:p.His14Tyr
XM_011517849.2:c.40C>T	XP_011516151.1:p.His14Tyr
XM_011517850.1:c.40C>T	XP_011516152.1:p.His14Tyr
XM_011517850.3:c.40C>T	XP_011516152.1:p.His14Tyr
XM_017014625.2:c.40C>T	XP_016870114.1:p.His14Tyr
XR_002956774.1:n.241C>T
XR_929232.1:n.294C>T
XR_929232.2:n.241C>T
XR_929233.1:n.294C>T
XR_929233.2:n.241C>T
XR_929235.1:n.294C>T