Canonical Allele Identifier: CA364143566

Gene: GNMT

Linked Data

• dbSNP Id: rs1351789614
• gnomAD v2: 6-42928693-A-C
• gnomAD v3: 6-42960955-A-C
• gnomAD v4: 6-42960955-A-C
• MyVariant Identifiers: chr6:g.42928693A>C (hg19) ; chr6:g.42960955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960955A>C , CM000668.2:g.42960955A>C	GRCh38
NC_000006.11:g.42928693A>C , CM000668.1:g.42928693A>C	GRCh37
NC_000006.10:g.43036671A>C	NCBI36
NG_008396.1:g.5194A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.188A>C MANE Select	ENSP00000361894.3:p.Asp63Ala
ENST00000372808.3:c.188A>C	ENSP00000361894.3:p.Asp63Ala
NM_018960.4:c.188A>C	NP_061833.1:p.Asp63Ala
XM_011514493.1:c.-13-1257A>C	XP_011512795.1:n.-13-1257A>C
XM_011514494.1:c.-13-1257A>C	XP_011512796.1:n.-13-1257A>C
NM_001318856.1:c.9-1257A>C	NP_001305785.1:n.9-1257A>C
NM_001318857.1:c.152-1807A>C	NP_001305786.1:n.152-1807A>C
NM_001318858.1:c.152-1807A>C	NP_001305787.1:n.152-1807A>C
NM_001318865.1:c.188A>C	NP_001305794.1:p.Asp63Ala
NM_018960.5:c.188A>C	NP_061833.1:p.Asp63Ala
NR_134890.1:n.690-1807A>C
NR_134891.1:n.593-1807A>C
NR_134892.1:n.593-1257A>C
NR_134899.1:n.202A>C
NM_018960.6:c.188A>C MANE Select	NP_061833.1:p.Asp63Ala
NM_001318856.2:c.9-1257A>C	NP_001305785.1:n.9-1257A>C
NM_001318857.2:c.152-1807A>C	NP_001305786.1:n.152-1807A>C
NM_001318858.2:c.152-1807A>C	NP_001305787.1:n.152-1807A>C
NM_001318865.2:c.188A>C	NP_001305794.1:p.Asp63Ala
NR_134890.2:n.340-1807A>C
NR_134891.2:n.243-1807A>C
NR_134892.2:n.243-1257A>C
NR_134899.2:n.202A>C