Canonical Allele Identifier: CA10838115
Gene: GLIS1 HGNC NCBI

Linked Data

dbSNP Id: rs6588480
gnomAD v2: 1-53978119-A-G
gnomAD v3: 1-53512446-A-G
gnomAD v4: 1-53512446-A-G
MyVariant Identifiers: chr1:g.53978119A>G (hg19) chr1:g.53512446A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53512446A>G , CM000663.2:g.53512446A>G GRCh38
NC_000001.10:g.53978119A>G , CM000663.1:g.53978119A>G GRCh37
NC_000001.9:g.53750707A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000628545.2:c.1883+2179T>C MANE Select ENSP00000486112.1:n.1883+2179T>C
ENST00000312233.4:c.1358+2179T>C ENSP00000309653.2:n.1358+2179T>C
ENST00000628545.1:c.1883+2179T>C ENSP00000486112.1:n.1883+2179T>C
NM_147193.2:c.1358+2179T>C NP_671726.2:n.1358+2179T>C
XM_011540785.1:c.*444T>C XP_011539087.1:n.*444T>C
XM_017000408.1:c.1883+2179T>C XP_016855897.1:n.1883+2179T>C
XM_017000409.1:c.1871+2179T>C XP_016855898.1:n.1871+2179T>C
XM_017000410.1:c.1883+2179T>C XP_016855899.1:n.1883+2179T>C
XM_017000411.1:c.1883+2179T>C XP_016855900.1:n.1883+2179T>C
NM_001367484.1:c.1883+2179T>C MANE Select NP_001354413.1:n.1883+2179T>C
NM_001390836.1:c.1907+2179T>C NP_001377765.1:n.1907+2179T>C
NM_001390837.1:c.1883+2179T>C NP_001377766.1:n.1883+2179T>C
NM_001390838.1:c.1883+2179T>C NP_001377767.1:n.1883+2179T>C
NM_147193.4:c.1358+2179T>C NP_671726.2:n.1358+2179T>C
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