Canonical Allele Identifier: CA631044788
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1479331383
gnomAD v2: 19-1399947-C-T
MyVariant Identifiers: chr19:g.1399947C>T (hg19) chr19:g.1399948C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399948C>T , CM000681.2:g.1399948C>T GRCh38
NC_000019.9:g.1399947C>T , CM000681.1:g.1399947C>T GRCh37
NC_000019.8:g.1350947C>T NCBI36
NG_009785.1:g.6606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-10G>A MANE Select ENSP00000252288.1:n.182-10G>A
ENST00000447102.8:c.182-10G>A ENSP00000403536.2:n.182-10G>A
ENST00000640762.1:c.113-10G>A ENSP00000492031.1:n.113-10G>A
ENST00000252288.6:c.182-10G>A ENSP00000252288.1:n.182-10G>A
ENST00000447102.7:c.182-10G>A ENSP00000403536.2:n.182-10G>A
NM_000156.5:c.182-10G>A NP_000147.1:n.182-10G>A
NM_138924.2:c.182-10G>A NP_620279.1:n.182-10G>A
NM_000156.6:c.182-10G>A MANE Select NP_000147.1:n.182-10G>A
NM_138924.3:c.182-10G>A NP_620279.1:n.182-10G>A
Search 100 bp 5'
Search 100 bp 3'