Canonical Allele Identifier: CA631301065
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1475556222
gnomAD v2: 19-1401531-T-G
gnomAD v3: 19-1401532-T-G
gnomAD v4: 19-1401532-T-G
MyVariant Identifiers: chr19:g.1401531T>G (hg19) chr19:g.1401532T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401532T>G , CM000681.2:g.1401532T>G GRCh38
NC_000019.9:g.1401531T>G , CM000681.1:g.1401531T>G GRCh37
NC_000019.8:g.1352531T>G NCBI36
NG_009785.1:g.5022A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-56A>C MANE Select ENSP00000252288.1:n.-56A>C
ENST00000447102.8:c.-56A>C ENSP00000403536.2:n.-56A>C
ENST00000252288.6:c.-56A>C ENSP00000252288.1:n.-56A>C
ENST00000447102.7:c.-56A>C ENSP00000403536.2:n.-56A>C
NM_000156.5:c.-56A>C NP_000147.1:n.-56A>C
NM_138924.2:c.-56A>C NP_620279.1:n.-56A>C
NM_000156.6:c.-56A>C MANE Select NP_000147.1:n.-56A>C
NM_138924.3:c.-56A>C NP_620279.1:n.-56A>C
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