Canonical Allele Identifier: CA369196741

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363303T>A (hg19) ; chr7:g.128723249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723249T>A , CM000669.2:g.128723249T>A	GRCh38
NC_000007.13:g.128363303T>A , CM000669.1:g.128363303T>A	GRCh37
NC_000007.12:g.128150539T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.740T>A MANE Select	ENSP00000477573.2:p.Leu247Gln
ENST00000315184.9:c.740T>A	ENSP00000326652.4:p.Leu247Gln
ENST00000466842.1:c.308T>A	ENSP00000417930.1:p.Leu103Gln
ENST00000469348.5:n.599T>A
ENST00000471558.5:c.740T>A	ENSP00000418672.1:p.Leu247Gln
ENST00000484425.6:c.311T>A	ENSP00000418591.2:p.Leu104Gln
ENST00000485070.5:c.443T>A	ENSP00000418192.1:p.Leu148Gln
ENST00000493738.5:n.696T>A
ENST00000621392.4:c.443T>A	ENSP00000477573.1:p.Leu148Gln
NM_001282788.1:c.740T>A	NP_001269717.1:p.Leu247Gln
NM_001282789.1:c.443T>A	NP_001269718.1:p.Leu148Gln
NM_032599.3:c.740T>A	NP_115988.1:p.Leu247Gln
NR_104242.1:n.840T>A
NR_104243.1:n.729T>A
XM_017012743.2:c.740T>A	XP_016868232.1:p.Leu247Gln
XR_002956499.1:n.791T>A
NM_001282788.2:c.740T>A	NP_001269717.1:p.Leu247Gln
NM_001282789.2:c.443T>A	NP_001269718.1:p.Leu148Gln
NM_032599.4:c.740T>A	NP_115988.1:p.Leu247Gln
NR_104242.2:n.791T>A
NR_104243.2:n.729T>A
NM_001282788.3:c.740T>A MANE Select	NP_001269717.1:p.Leu247Gln