Canonical Allele Identifier: CA631044782

Gene: GAMT

Linked Data

• dbSNP Id: rs1225538426
• gnomAD v2: 19-1399772-G-A
• MyVariant Identifiers: chr19:g.1399772G>A (hg19) ; chr19:g.1399773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399773G>A , CM000681.2:g.1399773G>A	GRCh38
NC_000019.9:g.1399772G>A , CM000681.1:g.1399772G>A	GRCh37
NC_000019.8:g.1350772G>A	NCBI36
NG_009785.1:g.6781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+20C>T MANE Select	ENSP00000252288.1:n.327+20C>T
ENST00000447102.8:c.327+20C>T	ENSP00000403536.2:n.327+20C>T
ENST00000591788.3:c.10+20C>T
ENST00000640762.1:c.258+20C>T	ENSP00000492031.1:n.258+20C>T
ENST00000252288.6:c.327+20C>T	ENSP00000252288.1:n.327+20C>T
ENST00000447102.7:c.327+20C>T	ENSP00000403536.2:n.327+20C>T
ENST00000591788.2:c.12+20C>T	ENSP00000466341.2:n.12+20C>T
NM_000156.5:c.327+20C>T	NP_000147.1:n.327+20C>T
NM_138924.2:c.327+20C>T	NP_620279.1:n.327+20C>T
NM_000156.6:c.327+20C>T MANE Select	NP_000147.1:n.327+20C>T
NM_138924.3:c.327+20C>T	NP_620279.1:n.327+20C>T