Canonical Allele Identifier: CA457551135

Gene: GARIN1B

Linked Data

• gnomAD v4: 7-128723250-A-T
• MyVariant Identifiers: chr7:g.128363304A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723250A>T , CM000669.2:g.128723250A>T	GRCh38
NC_000007.13:g.128363304A>T , CM000669.1:g.128363304A>T	GRCh37
NC_000007.12:g.128150540A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.741A>T MANE Select	ENSP00000477573.2:p.Leu247=
ENST00000315184.9:c.741A>T	ENSP00000326652.4:p.Leu247=
ENST00000466842.1:c.309A>T	ENSP00000417930.1:p.Leu103=
ENST00000469348.5:n.600A>T
ENST00000471558.5:c.741A>T	ENSP00000418672.1:p.Leu247=
ENST00000484425.6:c.312A>T	ENSP00000418591.2:p.Leu104=
ENST00000485070.5:c.444A>T	ENSP00000418192.1:p.Leu148=
ENST00000493738.5:n.697A>T
ENST00000621392.4:c.444A>T	ENSP00000477573.1:p.Leu148=
NM_001282788.1:c.741A>T	NP_001269717.1:p.Leu247=
NM_001282789.1:c.444A>T	NP_001269718.1:p.Leu148=
NM_032599.3:c.741A>T	NP_115988.1:p.Leu247=
NR_104242.1:n.841A>T
NR_104243.1:n.730A>T
XM_017012743.2:c.741A>T	XP_016868232.1:p.Leu247=
XR_002956499.1:n.792A>T
NM_001282788.2:c.741A>T	NP_001269717.1:p.Leu247=
NM_001282789.2:c.444A>T	NP_001269718.1:p.Leu148=
NM_032599.4:c.741A>T	NP_115988.1:p.Leu247=
NR_104242.2:n.792A>T
NR_104243.2:n.730A>T
NM_001282788.3:c.741A>T MANE Select	NP_001269717.1:p.Leu247=