Canonical Allele Identifier: CA631044780

Gene: GAMT

Linked Data

• dbSNP Id: rs1386804078
• gnomAD v2: 19-1399754-G-C
• gnomAD v4: 19-1399755-G-C
• MyVariant Identifiers: chr19:g.1399754G>C (hg19) ; chr19:g.1399755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399755G>C , CM000681.2:g.1399755G>C	GRCh38
NC_000019.9:g.1399754G>C , CM000681.1:g.1399754G>C	GRCh37
NC_000019.8:g.1350754G>C	NCBI36
NG_009785.1:g.6799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+38C>G MANE Select	ENSP00000252288.1:n.327+38C>G
ENST00000447102.8:c.327+38C>G	ENSP00000403536.2:n.327+38C>G
ENST00000591788.3:c.10+38C>G
ENST00000640762.1:c.258+38C>G	ENSP00000492031.1:n.258+38C>G
ENST00000252288.6:c.327+38C>G	ENSP00000252288.1:n.327+38C>G
ENST00000447102.7:c.327+38C>G	ENSP00000403536.2:n.327+38C>G
ENST00000591788.2:c.12+38C>G	ENSP00000466341.2:n.12+38C>G
NM_000156.5:c.327+38C>G	NP_000147.1:n.327+38C>G
NM_138924.2:c.327+38C>G	NP_620279.1:n.327+38C>G
NM_000156.6:c.327+38C>G MANE Select	NP_000147.1:n.327+38C>G
NM_138924.3:c.327+38C>G	NP_620279.1:n.327+38C>G