Canonical Allele Identifier: CA9043679

Gene: GAMT

Linked Data

• dbSNP Id: rs773648628
• ExAC: 19:1399212 G / GC
• gnomAD v2: 19-1399212-G-GC
• gnomAD v4: 19-1399213-G-GC
• MyVariant Identifiers: chr19:g.1399212_1399213insC (hg19) ; chr19:g.1399213_1399214insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399216dup , CM000681.2:g.1399216dup	GRCh38
NC_000019.9:g.1399215dup , CM000681.1:g.1399215dup	GRCh37
NC_000019.8:g.1350215dup	NCBI36
NG_009785.1:g.7340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-19dup MANE Select	ENSP00000252288.1:n.392-19dup
ENST00000447102.8:c.392-19dup	ENSP00000403536.2:n.392-19dup
ENST00000591788.3:c.75-19dup
ENST00000640164.1:n.225-19dup
ENST00000640762.1:c.323-19dup	ENSP00000492031.1:n.323-19dup
ENST00000252288.6:c.392-19dup	ENSP00000252288.1:n.392-19dup
ENST00000447102.7:c.392-19dup	ENSP00000403536.2:n.392-19dup
ENST00000591788.2:c.77-19dup	ENSP00000466341.2:n.77-19dup
NM_000156.5:c.392-19dup	NP_000147.1:n.392-19dup
NM_138924.2:c.392-19dup	NP_620279.1:n.392-19dup
NM_000156.6:c.392-19dup MANE Select	NP_000147.1:n.392-19dup
NM_138924.3:c.392-19dup	NP_620279.1:n.392-19dup