Canonical Allele Identifier: CA373266663

Gene: DNAI1

Linked Data

• dbSNP Id: rs1229575340
• gnomAD v2: 9-34517357-G-C
• gnomAD v4: 9-34517359-G-C
• MyVariant Identifiers: chr9:g.34517357G>C (hg19) ; chr9:g.34517359G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517359G>C , CM000671.2:g.34517359G>C	GRCh38
NC_000009.11:g.34517357G>C , CM000671.1:g.34517357G>C	GRCh37
NC_000009.10:g.34507357G>C	NCBI36
NG_008127.1:g.63547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1893G>C MANE Select	ENSP00000242317.4:p.Arg631Ser
ENST00000242317.8:c.1893G>C	ENSP00000242317.4:p.Arg631Ser
ENST00000442556.1:c.329+2620G>C
ENST00000470169.5:c.681G>C
ENST00000485580.1:n.469G>C
ENST00000614641.4:c.1905G>C	ENSP00000480538.1:p.Arg635Ser
NM_001281428.1:c.1905G>C	NP_001268357.1:p.Arg635Ser
NM_012144.3:c.1893G>C	NP_036276.1:p.Arg631Ser
XM_006716758.2:c.1362G>C	XP_006716821.1:p.Arg454Ser
XM_011517848.1:c.1647G>C	XP_011516150.1:p.Arg549Ser
XM_006716758.3:c.1362G>C	XP_006716821.1:p.Arg454Ser
XM_011517848.2:c.1647G>C	XP_011516150.1:p.Arg549Ser
XM_017014625.2:c.1635G>C	XP_016870114.1:p.Arg545Ser
XR_002956774.1:n.1996G>C
NM_012144.4:c.1893G>C MANE Select	NP_036276.1:p.Arg631Ser
NM_001281428.2:c.1905G>C	NP_001268357.1:p.Arg635Ser