Canonical Allele Identifier: CA5034046

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 454836
• ClinVar RCV Id: RCV000552711 ; RCV000667327 ; RCV001551769
• dbSNP Id: rs200488444
• ExAC: 9:34490009 G / C
• gnomAD v2: 9-34490009-G-C
• gnomAD v3: 9-34490011-G-C
• gnomAD v4: 9-34490011-G-C
• MyVariant Identifiers: chr9:g.34490009G>C (hg19) ; chr9:g.34490011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34490011G>C , CM000671.2:g.34490011G>C	GRCh38
NC_000009.11:g.34490009G>C , CM000671.1:g.34490009G>C	GRCh37
NC_000009.10:g.34480009G>C	NCBI36
NG_008127.1:g.36199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.389-1G>C MANE Select	ENSP00000242317.4:n.389-1G>C
ENST00000242317.8:c.389-1G>C	ENSP00000242317.4:n.389-1G>C
ENST00000437363.5:c.356-1G>C	ENSP00000395396.1:n.356-1G>C
ENST00000488369.1:n.505-1G>C
ENST00000614641.4:c.400G>C	ENSP00000480538.1:p.Gly134Arg
NM_001281428.1:c.400G>C	NP_001268357.1:p.Gly134Arg
NM_012144.3:c.389-1G>C	NP_036276.1:n.389-1G>C
XM_011517846.1:c.400G>C	XP_011516148.1:p.Gly134Arg
XM_011517847.1:c.400G>C	XP_011516149.1:p.Gly134Arg
XM_011517848.1:c.400G>C	XP_011516150.1:p.Gly134Arg
XM_011517849.1:c.400G>C	XP_011516151.1:p.Gly134Arg
XM_011517850.1:c.400G>C	XP_011516152.1:p.Gly134Arg
XR_929232.1:n.654G>C
XR_929233.1:n.654G>C
XR_929235.1:n.654G>C
XM_006716758.3:c.-88-152G>C	XP_006716821.1:n.-88-152G>C
XM_011517846.2:c.400G>C	XP_011516148.1:p.Gly134Arg
XM_011517847.3:c.400G>C	XP_011516149.1:p.Gly134Arg
XM_011517848.2:c.400G>C	XP_011516150.1:p.Gly134Arg
XM_011517849.2:c.400G>C	XP_011516151.1:p.Gly134Arg
XM_011517850.3:c.400G>C	XP_011516152.1:p.Gly134Arg
XM_017014625.2:c.389-1G>C	XP_016870114.1:n.389-1G>C
XR_002956774.1:n.601G>C
XR_929232.2:n.601G>C
XR_929233.2:n.601G>C
NM_012144.4:c.389-1G>C MANE Select	NP_036276.1:n.389-1G>C
NM_001281428.2:c.400G>C	NP_001268357.1:p.Gly134Arg