Canonical Allele Identifier: CA402998100

Gene: GAMT

Linked Data

• dbSNP Id: rs1449794637
• gnomAD v2: 19-1401346-G-A
• gnomAD v3: 19-1401347-G-A
• gnomAD v4: 19-1401347-G-A
• MyVariant Identifiers: chr19:g.1401346G>A (hg19) ; chr19:g.1401347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401347G>A , CM000681.2:g.1401347G>A	GRCh38
NC_000019.9:g.1401346G>A , CM000681.1:g.1401346G>A	GRCh37
NC_000019.8:g.1352346G>A	NCBI36
NG_009785.1:g.5207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.130C>T MANE Select	ENSP00000252288.1:p.Arg44Cys
ENST00000447102.8:c.130C>T	ENSP00000403536.2:p.Arg44Cys
ENST00000640762.1:c.112+18C>T	ENSP00000492031.1:n.112+18C>T
ENST00000252288.6:c.130C>T	ENSP00000252288.1:p.Arg44Cys
ENST00000447102.7:c.130C>T	ENSP00000403536.2:p.Arg44Cys
NM_000156.5:c.130C>T	NP_000147.1:p.Arg44Cys
NM_138924.2:c.130C>T	NP_620279.1:p.Arg44Cys
NM_000156.6:c.130C>T MANE Select	NP_000147.1:p.Arg44Cys
NM_138924.3:c.130C>T	NP_620279.1:p.Arg44Cys