Canonical Allele Identifier: CA373247207

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34490465C>T , CM000671.2:g.34490465C>T	GRCh38
NC_000009.11:g.34490463C>T , CM000671.1:g.34490463C>T	GRCh37
NC_000009.10:g.34480463C>T	NCBI36
NG_008127.1:g.36653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.598C>T MANE Select	NP_036276.1:p.Gln200Ter
ENST00000242317.9:c.598C>T MANE Select	ENSP00000242317.4:p.Gln200Ter
NM_001281428.1:c.610C>T	NP_001268357.1:p.Gln204Ter
NM_001281428.2:c.610C>T	NP_001268357.1:p.Gln204Ter
NM_012144.3:c.598C>T	NP_036276.1:p.Gln200Ter
ENST00000242317.8:c.598C>T	ENSP00000242317.4:p.Gln200Ter
ENST00000437363.5:c.565C>T	ENSP00000395396.1:p.Gln189Ter
ENST00000488369.1:n.714C>T
ENST00000614641.4:c.610C>T	ENSP00000480538.1:p.Gln204Ter
XM_006716758.2:c.67C>T	XP_006716821.1:p.Gln23Ter
XM_006716758.3:c.67C>T	XP_006716821.1:p.Gln23Ter
XM_011517846.1:c.610C>T	XP_011516148.1:p.Gln204Ter
XM_011517846.2:c.610C>T	XP_011516148.1:p.Gln204Ter
XM_011517847.1:c.610C>T	XP_011516149.1:p.Gln204Ter
XM_011517847.3:c.610C>T	XP_011516149.1:p.Gln204Ter
XM_011517848.1:c.610C>T	XP_011516150.1:p.Gln204Ter
XM_011517848.2:c.610C>T	XP_011516150.1:p.Gln204Ter
XM_011517849.1:c.610C>T	XP_011516151.1:p.Gln204Ter
XM_011517849.2:c.610C>T	XP_011516151.1:p.Gln204Ter
XM_011517850.1:c.610C>T	XP_011516152.1:p.Gln204Ter
XM_011517850.3:c.610C>T	XP_011516152.1:p.Gln204Ter
XM_017014625.2:c.598C>T	XP_016870114.1:p.Gln200Ter
XR_002956774.1:n.811C>T
XR_929232.1:n.864C>T
XR_929232.2:n.811C>T
XR_929233.1:n.864C>T
XR_929233.2:n.811C>T
XR_929235.1:n.864C>T