Canonical Allele Identifier: CA16603794
Gene: GLMN HGNC NCBI

Linked Data

ClinVar Variation Id: 379875
ClinVar RCV Id: RCV000427751
dbSNP Id: rs1057520767
gnomAD v4: 1-92297959-A-G
MyVariant Identifiers: chr1:g.92763516A>G (hg19) chr1:g.92297959A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92297959A>G , CM000663.2:g.92297959A>G GRCh38
NC_000001.10:g.92763516A>G , CM000663.1:g.92763516A>G GRCh37
NC_000001.9:g.92536104A>G NCBI36
NG_009796.1:g.6051T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370360.8:c.39+2T>C MANE Select ENSP00000359385.3:n.39+2T>C
ENST00000370360.7:c.39+2T>C ENSP00000359385.3:n.39+2T>C
ENST00000487911.1:n.134T>C
ENST00000495106.5:c.39+2T>C ENSP00000436829.1:n.39+2T>C
NM_053274.2:c.39+2T>C NP_444504.1:n.39+2T>C
XM_005270400.1:c.39+2T>C XP_005270457.1:n.39+2T>C
XM_005270401.2:c.39+2T>C XP_005270458.1:n.39+2T>C
XM_006710309.1:c.-487+2T>C XP_006710372.1:n.-487+2T>C
XM_011540544.1:c.39+2T>C XP_011538846.1:n.39+2T>C
XM_011540545.1:c.39+2T>C XP_011538847.1:n.39+2T>C
XM_011540546.1:c.39+2T>C XP_011538848.1:n.39+2T>C
XR_946529.1:n.154+2T>C
NM_001319683.1:c.39+2T>C NP_001306612.1:n.39+2T>C
NR_135089.1:n.154+2T>C
XM_005270401.3:c.39+2T>C XP_005270458.1:n.39+2T>C
XM_006710309.2:c.-487+2T>C XP_006710372.1:n.-487+2T>C
XM_011540546.2:c.39+2T>C XP_011538848.1:n.39+2T>C
XM_017000137.1:c.138+2T>C XP_016855626.1:n.138+2T>C
XM_017000138.1:c.138+2T>C XP_016855627.1:n.138+2T>C
XM_017000139.1:c.138+2T>C XP_016855628.1:n.138+2T>C
XM_017000140.1:c.138+2T>C XP_016855629.1:n.138+2T>C
XM_017000141.1:c.39+2T>C XP_016855630.1:n.39+2T>C
XM_017000142.1:c.-487+2T>C XP_016855631.1:n.-487+2T>C
XM_017000143.1:c.-487+2T>C XP_016855632.1:n.-487+2T>C
XM_017000144.1:c.-654+2T>C XP_016855633.1:n.-654+2T>C
XR_002959248.1:n.522+2T>C
XR_002959249.1:n.154+2T>C
NM_053274.3:c.39+2T>C MANE Select NP_444504.1:n.39+2T>C
NM_001319683.2:c.39+2T>C NP_001306612.1:n.39+2T>C
NR_135089.2:n.132+2T>C
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