Canonical Allele Identifier: CA524695608

Gene: GBP6

Linked Data

• dbSNP Id: rs928655
• gnomAD v2: 1-89849574-G-C
• gnomAD v3: 1-89384015-G-C
• gnomAD v4: 1-89384015-G-C
• MyVariant Identifiers: chr1:g.89849574G>C (hg19) ; chr1:g.89384015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.89384015G>C , CM000663.2:g.89384015G>C	GRCh38
NC_000001.10:g.89849574G>C , CM000663.1:g.89849574G>C	GRCh37
NC_000001.9:g.89622162G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370456.5:c.1469-78G>C MANE Select	ENSP00000359485.5:n.1469-78G>C
ENST00000370456.4:c.1469-78G>C	ENSP00000359485.4:n.1469-78G>C
NM_198460.2:c.1469-78G>C	NP_940862.2:n.1469-78G>C
XM_005270549.3:c.1079-78G>C	XP_005270606.1:n.1079-78G>C
XM_011540835.1:c.1469-78G>C	XP_011539137.1:n.1469-78G>C
NM_001320257.1:c.1079-78G>C	NP_001307186.1:n.1079-78G>C
XM_011540835.3:c.1469-78G>C	XP_011539137.1:n.1469-78G>C
NM_198460.3:c.1469-78G>C MANE Select	NP_940862.2:n.1469-78G>C
NM_001320257.2:c.1079-78G>C	NP_001307186.1:n.1079-78G>C