Canonical Allele Identifier: CA504895087
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398954C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398955C>G , CM000681.2:g.1398955C>G GRCh38
NC_000019.9:g.1398954C>G , CM000681.1:g.1398954C>G GRCh37
NC_000019.8:g.1349954C>G NCBI36
NG_009785.1:g.7599G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.531G>C MANE Select ENSP00000252288.1:p.Leu177=
ENST00000447102.8:c.531G>C ENSP00000403536.2:p.Leu177=
ENST00000591788.3:c.214G>C
ENST00000640164.1:n.364G>C
ENST00000640762.1:c.462G>C ENSP00000492031.1:p.Leu154=
ENST00000252288.6:c.531G>C ENSP00000252288.1:p.Leu177=
ENST00000447102.7:c.531G>C ENSP00000403536.2:p.Leu177=
ENST00000591788.2:c.216G>C ENSP00000466341.2:p.Leu72=
NM_000156.5:c.531G>C NP_000147.1:p.Leu177=
NM_138924.2:c.531G>C NP_620279.1:p.Leu177=
NM_000156.6:c.531G>C MANE Select NP_000147.1:p.Leu177=
NM_138924.3:c.531G>C NP_620279.1:p.Leu177=
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