Canonical Allele Identifier: CA373266283

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517303-G-T
• MyVariant Identifiers: chr9:g.34517301G>T (hg19) ; chr9:g.34517303G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517303G>T , CM000671.2:g.34517303G>T	GRCh38
NC_000009.11:g.34517301G>T , CM000671.1:g.34517301G>T	GRCh37
NC_000009.10:g.34507301G>T	NCBI36
NG_008127.1:g.63491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1837G>T MANE Select	ENSP00000242317.4:p.Ala613Ser
ENST00000242317.8:c.1837G>T	ENSP00000242317.4:p.Ala613Ser
ENST00000442556.1:c.329+2564G>T
ENST00000470169.5:c.625G>T
ENST00000485580.1:n.413G>T
ENST00000614641.4:c.1849G>T	ENSP00000480538.1:p.Ala617Ser
NM_001281428.1:c.1849G>T	NP_001268357.1:p.Ala617Ser
NM_012144.3:c.1837G>T	NP_036276.1:p.Ala613Ser
XM_006716758.2:c.1306G>T	XP_006716821.1:p.Ala436Ser
XM_011517848.1:c.1591G>T	XP_011516150.1:p.Ala531Ser
XM_006716758.3:c.1306G>T	XP_006716821.1:p.Ala436Ser
XM_011517848.2:c.1591G>T	XP_011516150.1:p.Ala531Ser
XM_017014625.2:c.1579G>T	XP_016870114.1:p.Ala527Ser
XR_002956774.1:n.1940G>T
NM_012144.4:c.1837G>T MANE Select	NP_036276.1:p.Ala613Ser
NM_001281428.2:c.1849G>T	NP_001268357.1:p.Ala617Ser