Canonical Allele Identifier: CA402994642
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399001G>C (hg19) chr19:g.1399002G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399002G>C , CM000681.2:g.1399002G>C GRCh38
NC_000019.9:g.1399001G>C , CM000681.1:g.1399001G>C GRCh37
NC_000019.8:g.1350001G>C NCBI36
NG_009785.1:g.7552C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.484C>G MANE Select ENSP00000252288.1:p.Pro162Ala
ENST00000447102.8:c.484C>G ENSP00000403536.2:p.Pro162Ala
ENST00000591788.3:c.167C>G
ENST00000640164.1:n.317C>G
ENST00000640762.1:c.415C>G ENSP00000492031.1:p.Pro139Ala
ENST00000252288.6:c.484C>G ENSP00000252288.1:p.Pro162Ala
ENST00000447102.7:c.484C>G ENSP00000403536.2:p.Pro162Ala
ENST00000591788.2:c.169C>G ENSP00000466341.2:p.Pro57Ala
NM_000156.5:c.484C>G NP_000147.1:p.Pro162Ala
NM_138924.2:c.484C>G NP_620279.1:p.Pro162Ala
NM_000156.6:c.484C>G MANE Select NP_000147.1:p.Pro162Ala
NM_138924.3:c.484C>G NP_620279.1:p.Pro162Ala
Search 100 bp 5'
Search 100 bp 3'