Canonical Allele Identifier: CA493296237

Linked Data

MyVariant Identifiers: chr16:g.4383442G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4333441G>C , CM000678.2:g.4333441G>C GRCh38
NC_000016.9:g.4383442G>C , CM000678.1:g.4383442G>C GRCh37
NC_000016.8:g.4323443G>C NCBI36
NG_016391.1:g.6218G>C
NG_016391.2:g.23681G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433375.2:c.267G>C (GLIS2) MANE Select ENSP00000395547.1:p.Leu89=
ENST00000262366.7:c.267G>C (GLIS2) ENSP00000262366.3:p.Leu89=
ENST00000433375.1:c.267G>C (GLIS2) ENSP00000395547.1:p.Leu89=
ENST00000577031.5:c.292-1667C>G (PAM16) ENSP00000459113.1:n.292-1667C>G
NM_032575.2:c.267G>C (GLIS2) NP_115964.2:p.Leu89=
XM_005255641.3:c.267G>C (GLIS2) XP_005255698.1:p.Leu89=
XM_005255642.2:c.267G>C (GLIS2) XP_005255699.1:p.Leu89=
NM_001318918.1:c.267G>C (GLIS2) NP_001305847.1:p.Leu89=
XM_005255641.4:c.267G>C (GLIS2) XP_005255698.1:p.Leu89=
NM_032575.3:c.267G>C (GLIS2) MANE Select NP_115964.2:p.Leu89=
NM_001318918.2:c.267G>C (GLIS2) NP_001305847.1:p.Leu89=