Canonical Allele Identifier: CA504895120

Gene: GAMT

Linked Data

• dbSNP Id: rs2082615589
• MyVariant Identifiers: chr19:g.1398783C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398784C>T , CM000681.2:g.1398784C>T	GRCh38
NC_000019.9:g.1398783C>T , CM000681.1:g.1398783C>T	GRCh37
NC_000019.8:g.1349783C>T	NCBI36
NG_009785.1:g.7770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+132G>A MANE Select	ENSP00000252288.1:n.570+132G>A
ENST00000447102.8:c.702G>A	ENSP00000403536.2:p.Leu234=
ENST00000591788.3:c.254-37G>A
ENST00000640164.1:n.403+132G>A
ENST00000640762.1:c.501+132G>A	ENSP00000492031.1:n.501+132G>A
ENST00000252288.6:c.570+132G>A	ENSP00000252288.1:n.570+132G>A
ENST00000447102.7:c.702G>A	ENSP00000403536.2:p.Leu234=
ENST00000591788.2:c.256-37G>A	ENSP00000466341.2:n.256-37G>A
NM_000156.5:c.570+132G>A	NP_000147.1:n.570+132G>A
NM_138924.2:c.702G>A	NP_620279.1:p.Leu234=
NM_000156.6:c.570+132G>A MANE Select	NP_000147.1:n.570+132G>A
NM_138924.3:c.702G>A	NP_620279.1:p.Leu234=