Canonical Allele Identifier: CA383227489

Gene: KIRREL3 ST3GAL4

Linked Data

• dbSNP Id: rs1057519593
• gnomAD v2: 11-126294793-C-A
• MyVariant Identifiers: chr11:g.126294793C>A (hg19) ; chr11:g.126424898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126424898C>A , CM000673.2:g.126424898C>A	GRCh38
NC_000011.9:g.126294793C>A , CM000673.1:g.126294793C>A	GRCh37
NC_000011.8:g.125800003C>A	NCBI36
NG_012971.1:g.580974G>T
NG_053025.1:g.74254C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525144.7:c.2019G>T (KIRREL3) MANE Select	ENSP00000435466.2:p.Met673Ile
ENST00000416561.6:c.1896G>T (KIRREL3)	ENSP00000408692.3:p.Met632Ile
ENST00000524834.5:n.630-15288C>A (ST3GAL4)
ENST00000525144.6:c.2019G>T (KIRREL3)	ENSP00000435466.2:p.Met673Ile
ENST00000529097.6:c.1983G>T (KIRREL3)	ENSP00000434081.2:p.Met661Ile
NM_001301097.1:c.1983G>T (KIRREL3)	NP_001288026.1:p.Met661Ile
NM_032531.3:c.2019G>T (KIRREL3)	NP_115920.1:p.Met673Ile
XM_011542959.1:c.772-15288C>A (ST3GAL4)	XP_011541261.1:n.772-15288C>A
XM_011542960.1:c.772-15288C>A (ST3GAL4)	XP_011541262.1:n.772-15288C>A
XM_011542961.1:c.772-15288C>A (ST3GAL4)	XP_011541263.1:n.772-15288C>A
XM_011542962.1:c.772-15288C>A (ST3GAL4)	XP_011541264.1:n.772-15288C>A
XM_011543026.1:c.2112G>T (KIRREL3)	XP_011541328.1:p.Met704Ile
XM_011543027.1:c.2094G>T (KIRREL3)	XP_011541329.1:p.Met698Ile
XM_011543028.1:c.2094G>T (KIRREL3)	XP_011541330.1:p.Met698Ile
XM_011543029.1:c.2094G>T (KIRREL3)	XP_011541331.1:p.Met698Ile
XM_011543030.1:c.2037G>T (KIRREL3)	XP_011541332.1:p.Met679Ile
XM_011543031.1:c.2019G>T (KIRREL3)	XP_011541333.1:p.Met673Ile
XM_011543032.1:c.2001G>T (KIRREL3)	XP_011541334.1:p.Met667Ile
XM_011543033.1:c.1983G>T (KIRREL3)	XP_011541335.1:p.Met661Ile
XM_011543034.1:c.1452G>T (KIRREL3)	XP_011541336.1:p.Met484Ile
XM_011543026.2:c.2112G>T (KIRREL3)	XP_011541328.1:p.Met704Ile
XM_011543027.2:c.2094G>T (KIRREL3)	XP_011541329.1:p.Met698Ile
XM_011543028.2:c.2094G>T (KIRREL3)	XP_011541330.1:p.Met698Ile
XM_011543030.3:c.2037G>T (KIRREL3)	XP_011541332.1:p.Met679Ile
XM_011543031.2:c.2019G>T (KIRREL3)	XP_011541333.1:p.Met673Ile
XM_011543032.3:c.2001G>T (KIRREL3)	XP_011541334.1:p.Met667Ile
XM_017018419.1:c.2058G>T (KIRREL3)	XP_016873908.1:p.Met686Ile
XM_017018420.1:c.2019G>T (KIRREL3)	XP_016873909.1:p.Met673Ile
NM_032531.4:c.2019G>T (KIRREL3) MANE Select	NP_115920.1:p.Met673Ile