Canonical Allele Identifier: CA373253318

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34500821C>T , CM000671.2:g.34500821C>T	GRCh38
NC_000009.11:g.34500819C>T , CM000671.1:g.34500819C>T	GRCh37
NC_000009.10:g.34490819C>T	NCBI36
NG_008127.1:g.47009C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1001C>T MANE Select	NP_036276.1:p.Ser334Phe
ENST00000242317.9:c.1001C>T MANE Select	ENSP00000242317.4:p.Ser334Phe
NM_001281428.1:c.1013C>T	NP_001268357.1:p.Ser338Phe
NM_001281428.2:c.1013C>T	NP_001268357.1:p.Ser338Phe
NM_012144.3:c.1001C>T	NP_036276.1:p.Ser334Phe
ENST00000242317.8:c.1001C>T	ENSP00000242317.4:p.Ser334Phe
ENST00000614641.4:c.1013C>T	ENSP00000480538.1:p.Ser338Phe
XM_006716758.2:c.470C>T	XP_006716821.1:p.Ser157Phe
XM_006716758.3:c.470C>T	XP_006716821.1:p.Ser157Phe
XM_011517846.1:c.1013C>T	XP_011516148.1:p.Ser338Phe
XM_011517846.2:c.1013C>T	XP_011516148.1:p.Ser338Phe
XM_011517847.1:c.1013C>T	XP_011516149.1:p.Ser338Phe
XM_011517847.3:c.1013C>T	XP_011516149.1:p.Ser338Phe
XM_011517848.1:c.1013C>T	XP_011516150.1:p.Ser338Phe
XM_011517848.2:c.1013C>T	XP_011516150.1:p.Ser338Phe
XM_011517849.1:c.1013C>T	XP_011516151.1:p.Ser338Phe
XM_011517849.2:c.1013C>T	XP_011516151.1:p.Ser338Phe
XM_011517850.1:c.1013C>T	XP_011516152.1:p.Ser338Phe
XM_011517850.3:c.1013C>T	XP_011516152.1:p.Ser338Phe
XM_017014625.2:c.1001C>T	XP_016870114.1:p.Ser334Phe
XR_002956774.1:n.1214C>T
XR_929232.1:n.1267C>T
XR_929232.2:n.1214C>T
XR_929233.1:n.1267C>T
XR_929233.2:n.1214C>T
XR_929235.1:n.1267C>T