Canonical Allele Identifier: CA192629050

Gene: DNAI1

Linked Data

• dbSNP Id: rs894465418
• gnomAD v3: 9-34489360-T-C
• gnomAD v4: 9-34489360-T-C
• MyVariant Identifiers: chr9:g.34489358T>C (hg19) ; chr9:g.34489360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489360T>C , CM000671.2:g.34489360T>C	GRCh38
NC_000009.11:g.34489358T>C , CM000671.1:g.34489358T>C	GRCh37
NC_000009.10:g.34479358T>C	NCBI36
NG_008127.1:g.35548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.299T>C MANE Select	ENSP00000242317.4:p.Leu100Pro
ENST00000242317.8:c.299T>C	ENSP00000242317.4:p.Leu100Pro
ENST00000437363.5:c.266T>C	ENSP00000395396.1:p.Leu89Pro
ENST00000488369.1:n.415T>C
ENST00000614641.4:c.299T>C	ENSP00000480538.1:p.Leu100Pro
NM_001281428.1:c.299T>C	NP_001268357.1:p.Leu100Pro
NM_012144.3:c.299T>C	NP_036276.1:p.Leu100Pro
XM_011517846.1:c.299T>C	XP_011516148.1:p.Leu100Pro
XM_011517847.1:c.299T>C	XP_011516149.1:p.Leu100Pro
XM_011517848.1:c.299T>C	XP_011516150.1:p.Leu100Pro
XM_011517849.1:c.299T>C	XP_011516151.1:p.Leu100Pro
XM_011517850.1:c.299T>C	XP_011516152.1:p.Leu100Pro
XR_929232.1:n.553T>C
XR_929233.1:n.553T>C
XR_929235.1:n.553T>C
XM_006716758.3:c.-178T>C	XP_006716821.1:n.-178T>C
XM_011517846.2:c.299T>C	XP_011516148.1:p.Leu100Pro
XM_011517847.3:c.299T>C	XP_011516149.1:p.Leu100Pro
XM_011517848.2:c.299T>C	XP_011516150.1:p.Leu100Pro
XM_011517849.2:c.299T>C	XP_011516151.1:p.Leu100Pro
XM_011517850.3:c.299T>C	XP_011516152.1:p.Leu100Pro
XM_017014625.2:c.299T>C	XP_016870114.1:p.Leu100Pro
XR_002956774.1:n.500T>C
XR_929232.2:n.500T>C
XR_929233.2:n.500T>C
NM_012144.4:c.299T>C MANE Select	NP_036276.1:p.Leu100Pro
NM_001281428.2:c.299T>C	NP_001268357.1:p.Leu100Pro