Canonical Allele Identifier: CA369196745

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363305A>C (hg19) ; chr7:g.128723251A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723251A>C , CM000669.2:g.128723251A>C	GRCh38
NC_000007.13:g.128363305A>C , CM000669.1:g.128363305A>C	GRCh37
NC_000007.12:g.128150541A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000621392.5:c.742A>C MANE Select	ENSP00000477573.2:p.Met248Leu
ENST00000315184.9:c.742A>C	ENSP00000326652.4:p.Met248Leu
ENST00000466842.1:c.310A>C	ENSP00000417930.1:p.Met104Leu
ENST00000469348.5:n.601A>C
ENST00000471558.5:c.742A>C	ENSP00000418672.1:p.Met248Leu
ENST00000484425.6:c.313A>C	ENSP00000418591.2:p.Met105Leu
ENST00000485070.5:c.445A>C	ENSP00000418192.1:p.Met149Leu
ENST00000493738.5:n.698A>C
ENST00000621392.4:c.445A>C	ENSP00000477573.1:p.Met149Leu
NM_001282788.1:c.742A>C	NP_001269717.1:p.Met248Leu
NM_001282789.1:c.445A>C	NP_001269718.1:p.Met149Leu
NM_032599.3:c.742A>C	NP_115988.1:p.Met248Leu
NR_104242.1:n.842A>C
NR_104243.1:n.731A>C
XM_017012743.2:c.742A>C	XP_016868232.1:p.Met248Leu
XR_002956499.1:n.793A>C
NM_001282788.2:c.742A>C	NP_001269717.1:p.Met248Leu
NM_001282789.2:c.445A>C	NP_001269718.1:p.Met149Leu
NM_032599.4:c.742A>C	NP_115988.1:p.Met248Leu
NR_104242.2:n.793A>C
NR_104243.2:n.731A>C
NM_001282788.3:c.742A>C MANE Select	NP_001269717.1:p.Met248Leu