Canonical Allele Identifier: CA402994470
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398973A>G (hg19) chr19:g.1398974A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398974A>G , CM000681.2:g.1398974A>G GRCh38
NC_000019.9:g.1398973A>G , CM000681.1:g.1398973A>G GRCh37
NC_000019.8:g.1349973A>G NCBI36
NG_009785.1:g.7580T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.512T>C MANE Select ENSP00000252288.1:p.Leu171Pro
ENST00000447102.8:c.512T>C ENSP00000403536.2:p.Leu171Pro
ENST00000591788.3:c.195T>C
ENST00000640164.1:n.345T>C
ENST00000640762.1:c.443T>C ENSP00000492031.1:p.Leu148Pro
ENST00000252288.6:c.512T>C ENSP00000252288.1:p.Leu171Pro
ENST00000447102.7:c.512T>C ENSP00000403536.2:p.Leu171Pro
ENST00000591788.2:c.197T>C ENSP00000466341.2:p.Leu66Pro
NM_000156.5:c.512T>C NP_000147.1:p.Leu171Pro
NM_138924.2:c.512T>C NP_620279.1:p.Leu171Pro
NM_000156.6:c.512T>C MANE Select NP_000147.1:p.Leu171Pro
NM_138924.3:c.512T>C NP_620279.1:p.Leu171Pro
Search 100 bp 5'
Search 100 bp 3'