Canonical Allele Identifier: CA22653797

Gene: GLIS1

Linked Data

• dbSNP Id: rs797906
• gnomAD v3: 1-53725022-C-T
• gnomAD v4: 1-53725022-C-T
• MyVariant Identifiers: chr1:g.54190695C>T (hg19) ; chr1:g.53725022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53725022C>T , CM000663.2:g.53725022C>T	GRCh38
NC_000001.10:g.54190695C>T , CM000663.1:g.54190695C>T	GRCh37
NC_000001.9:g.53963283C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000628545.2:c.259+12784G>A MANE Select	ENSP00000486112.1:n.259+12784G>A
ENST00000312233.4:c.-267+8882G>A	ENSP00000309653.2:n.-267+8882G>A
ENST00000628545.1:c.259+12784G>A	ENSP00000486112.1:n.259+12784G>A
NM_147193.2:c.-267+8882G>A	NP_671726.2:n.-267+8882G>A
XM_011542547.1:c.520+12784G>A	XP_011540849.1:n.520+12784G>A
XM_017000408.1:c.259+12784G>A	XP_016855897.1:n.259+12784G>A
XM_017000409.1:c.259+12784G>A	XP_016855898.1:n.259+12784G>A
XM_017000410.1:c.259+12784G>A	XP_016855899.1:n.259+12784G>A
XM_017000411.1:c.259+12784G>A	XP_016855900.1:n.259+12784G>A
XM_017000412.1:c.259+12784G>A	XP_016855901.1:n.259+12784G>A
NM_001367484.1:c.259+12784G>A MANE Select	NP_001354413.1:n.259+12784G>A
NM_001390836.1:c.259+12784G>A	NP_001377765.1:n.259+12784G>A
NM_001390837.1:c.259+12784G>A	NP_001377766.1:n.259+12784G>A
NM_001390838.1:c.259+12784G>A	NP_001377767.1:n.259+12784G>A
NM_147193.4:c.-267+8882G>A	NP_671726.2:n.-267+8882G>A