Canonical Allele Identifier: CA10636902

Gene: MGP C12orf60

Linked Data

• ClinVar Variation Id: 307758
• ClinVar RCV Id: RCV000350370
• dbSNP Id: rs114512785
• gnomAD v2: 12-15034469-T-C
• gnomAD v3: 12-14881535-T-C
• gnomAD v4: 12-14881535-T-C
• MyVariant Identifiers: chr12:g.15034469T>C (hg19) ; chr12:g.14881535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14881535T>C , CM000674.2:g.14881535T>C	GRCh38
NC_000012.11:g.15034469T>C , CM000674.1:g.15034469T>C	GRCh37
NC_000012.10:g.14925736T>C	NCBI36
NG_023331.1:g.9385A>G
NG_023331.2:g.9385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539261.6:c.*604A>G (MGP) MANE Select	ENSP00000445907.1:n.*604A>G
ENST00000648334.1:n.126-22472T>C (C12orf60)
ENST00000527783.1:n.76-17634T>C (C12orf60)
ENST00000533472.1:n.87-22472T>C (C12orf60)
ENST00000539261.5:c.*604A>G (MGP)	ENSP00000445907.1:n.*604A>G
NM_000900.3:c.*604A>G (MGP)	NP_000891.2:n.*604A>G
NM_001190839.1:c.*604A>G (MGP)	NP_001177768.1:n.*604A>G
NM_000900.4:c.*604A>G (MGP)	NP_000891.2:n.*604A>G
NM_001190839.2:c.*604A>G (MGP)	NP_001177768.1:n.*604A>G
NM_000900.5:c.*604A>G (MGP) MANE Select	NP_000891.2:n.*604A>G
NM_001190839.3:c.*604A>G (MGP)	NP_001177768.1:n.*604A>G