Canonical Allele Identifier: CA950390

Gene: GLMN

Linked Data

• ClinVar Variation Id: 298132
• ClinVar RCV Id: RCV000349814
• dbSNP Id: rs149792649
• ExAC: 1:92733511 A / G
• gnomAD v2: 1-92733511-A-G
• gnomAD v3: 1-92267954-A-G
• gnomAD v4: 1-92267954-A-G
• MyVariant Identifiers: chr1:g.92733511A>G (hg19) ; chr1:g.92267954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92267954A>G , CM000663.2:g.92267954A>G	GRCh38
NC_000001.10:g.92733511A>G , CM000663.1:g.92733511A>G	GRCh37
NC_000001.9:g.92506099A>G	NCBI36
NG_009796.1:g.36056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1057T>C MANE Select	ENSP00000359385.3:p.Tyr353His
ENST00000370360.7:c.1057T>C	ENSP00000359385.3:p.Tyr353His
ENST00000463560.1:c.425T>C
ENST00000495106.5:c.1057T>C	ENSP00000436829.1:p.Tyr353His
ENST00000495852.6:c.322T>C	ENSP00000469157.2:p.Tyr108His
NM_053274.2:c.1057T>C	NP_444504.1:p.Tyr353His
XM_005270400.1:c.1057T>C	XP_005270457.1:p.Tyr353His
XM_005270401.2:c.931T>C	XP_005270458.1:p.Tyr311His
XM_006710309.1:c.556T>C	XP_006710372.1:p.Tyr186His
XM_011540544.1:c.1057T>C	XP_011538846.1:p.Tyr353His
XM_011540545.1:c.1057T>C	XP_011538847.1:p.Tyr353His
XM_011540546.1:c.1057T>C	XP_011538848.1:p.Tyr353His
XR_946529.1:n.1172T>C
NM_001319683.1:c.1057T>C	NP_001306612.1:p.Tyr353His
NR_135089.1:n.1172T>C
XM_005270401.3:c.931T>C	XP_005270458.1:p.Tyr311His
XM_006710309.2:c.556T>C	XP_006710372.1:p.Tyr186His
XM_011540546.2:c.1057T>C	XP_011538848.1:p.Tyr353His
XM_017000137.1:c.1156T>C	XP_016855626.1:p.Tyr386His
XM_017000138.1:c.1156T>C	XP_016855627.1:p.Tyr386His
XM_017000139.1:c.1156T>C	XP_016855628.1:p.Tyr386His
XM_017000140.1:c.1030T>C	XP_016855629.1:p.Tyr344His
XM_017000141.1:c.1057T>C	XP_016855630.1:p.Tyr353His
XM_017000142.1:c.556T>C	XP_016855631.1:p.Tyr186His
XM_017000143.1:c.556T>C	XP_016855632.1:p.Tyr186His
XM_017000144.1:c.286T>C	XP_016855633.1:p.Tyr96His
XR_002959248.1:n.1540T>C
XR_002959249.1:n.1172T>C
NM_053274.3:c.1057T>C MANE Select	NP_444504.1:p.Tyr353His
NM_001319683.2:c.1057T>C	NP_001306612.1:p.Tyr353His
NR_135089.2:n.1150T>C