Canonical Allele Identifier: CA5034601

Gene: DNAI1

Linked Data

• dbSNP Id: rs552486410
• ExAC: 9:34517499 C / T
• gnomAD v2: 9-34517499-C-T
• gnomAD v3: 9-34517501-C-T
• gnomAD v4: 9-34517501-C-T
• MyVariant Identifiers: chr9:g.34517499C>T (hg19) ; chr9:g.34517501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517501C>T , CM000671.2:g.34517501C>T	GRCh38
NC_000009.11:g.34517499C>T , CM000671.1:g.34517499C>T	GRCh37
NC_000009.10:g.34507499C>T	NCBI36
NG_008127.1:g.63689C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+34C>T MANE Select	ENSP00000242317.4:n.2001+34C>T
ENST00000242317.8:c.2001+34C>T	ENSP00000242317.4:n.2001+34C>T
ENST00000442556.1:c.329+2762C>T
ENST00000614641.4:c.2013+34C>T	ENSP00000480538.1:n.2013+34C>T
NM_001281428.1:c.2013+34C>T	NP_001268357.1:n.2013+34C>T
NM_012144.3:c.2001+34C>T	NP_036276.1:n.2001+34C>T
XM_006716758.2:c.1470+34C>T	XP_006716821.1:n.1470+34C>T
XM_011517848.1:c.1755+34C>T	XP_011516150.1:n.1755+34C>T
XM_006716758.3:c.1470+34C>T	XP_006716821.1:n.1470+34C>T
XM_011517848.2:c.1755+34C>T	XP_011516150.1:n.1755+34C>T
XM_017014625.2:c.1743+34C>T	XP_016870114.1:n.1743+34C>T
XR_002956774.1:n.2104+34C>T
NM_012144.4:c.2001+34C>T MANE Select	NP_036276.1:n.2001+34C>T
NM_001281428.2:c.2013+34C>T	NP_001268357.1:n.2013+34C>T