Canonical Allele Identifier: CA2582641938
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401483-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401483G>A , CM000681.2:g.1401483G>A GRCh38
NC_000019.9:g.1401482G>A , CM000681.1:g.1401482G>A GRCh37
NC_000019.8:g.1352482G>A NCBI36
NG_009785.1:g.5071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-7C>T MANE Select ENSP00000252288.1:n.-7C>T
ENST00000447102.8:c.-7C>T ENSP00000403536.2:n.-7C>T
ENST00000640762.1:c.-7C>T ENSP00000492031.1:n.-7C>T
ENST00000252288.6:c.-7C>T ENSP00000252288.1:n.-7C>T
ENST00000447102.7:c.-7C>T ENSP00000403536.2:n.-7C>T
NM_000156.5:c.-7C>T NP_000147.1:n.-7C>T
NM_138924.2:c.-7C>T NP_620279.1:n.-7C>T
NM_000156.6:c.-7C>T MANE Select NP_000147.1:n.-7C>T
NM_138924.3:c.-7C>T NP_620279.1:n.-7C>T
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