Canonical Allele Identifier: CA364143318

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960856-T-C
• MyVariant Identifiers: chr6:g.42928594T>C (hg19) ; chr6:g.42960856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960856T>C , CM000668.2:g.42960856T>C	GRCh38
NC_000006.11:g.42928594T>C , CM000668.1:g.42928594T>C	GRCh37
NC_000006.10:g.43036572T>C	NCBI36
NG_008396.1:g.5095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.89T>C MANE Select	ENSP00000361894.3:p.Val30Ala
ENST00000372808.3:c.89T>C	ENSP00000361894.3:p.Val30Ala
NM_018960.4:c.89T>C	NP_061833.1:p.Val30Ala
XM_011514493.1:c.-13-1356T>C	XP_011512795.1:n.-13-1356T>C
XM_011514494.1:c.-13-1356T>C	XP_011512796.1:n.-13-1356T>C
NM_001318856.1:c.9-1356T>C	NP_001305785.1:n.9-1356T>C
NM_001318857.1:c.152-1906T>C	NP_001305786.1:n.152-1906T>C
NM_001318858.1:c.152-1906T>C	NP_001305787.1:n.152-1906T>C
NM_001318865.1:c.89T>C	NP_001305794.1:p.Val30Ala
NM_018960.5:c.89T>C	NP_061833.1:p.Val30Ala
NR_134890.1:n.690-1906T>C
NR_134891.1:n.593-1906T>C
NR_134892.1:n.593-1356T>C
NR_134899.1:n.103T>C
NM_018960.6:c.89T>C MANE Select	NP_061833.1:p.Val30Ala
NM_001318856.2:c.9-1356T>C	NP_001305785.1:n.9-1356T>C
NM_001318857.2:c.152-1906T>C	NP_001305786.1:n.152-1906T>C
NM_001318858.2:c.152-1906T>C	NP_001305787.1:n.152-1906T>C
NM_001318865.2:c.89T>C	NP_001305794.1:p.Val30Ala
NR_134890.2:n.340-1906T>C
NR_134891.2:n.243-1906T>C
NR_134892.2:n.243-1356T>C
NR_134899.2:n.103T>C