Canonical Allele Identifier: CA373266730

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517373T>C (hg19) ; chr9:g.34517375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517375T>C , CM000671.2:g.34517375T>C	GRCh38
NC_000009.11:g.34517373T>C , CM000671.1:g.34517373T>C	GRCh37
NC_000009.10:g.34507373T>C	NCBI36
NG_008127.1:g.63563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1909T>C MANE Select	ENSP00000242317.4:p.Phe637Leu
ENST00000242317.8:c.1909T>C	ENSP00000242317.4:p.Phe637Leu
ENST00000442556.1:c.329+2636T>C
ENST00000470169.5:c.697T>C
ENST00000485580.1:n.485T>C
ENST00000614641.4:c.1921T>C	ENSP00000480538.1:p.Phe641Leu
NM_001281428.1:c.1921T>C	NP_001268357.1:p.Phe641Leu
NM_012144.3:c.1909T>C	NP_036276.1:p.Phe637Leu
XM_006716758.2:c.1378T>C	XP_006716821.1:p.Phe460Leu
XM_011517848.1:c.1663T>C	XP_011516150.1:p.Phe555Leu
XM_006716758.3:c.1378T>C	XP_006716821.1:p.Phe460Leu
XM_011517848.2:c.1663T>C	XP_011516150.1:p.Phe555Leu
XM_017014625.2:c.1651T>C	XP_016870114.1:p.Phe551Leu
XR_002956774.1:n.2012T>C
NM_012144.4:c.1909T>C MANE Select	NP_036276.1:p.Phe637Leu
NM_001281428.2:c.1921T>C	NP_001268357.1:p.Phe641Leu