Canonical Allele Identifier: CA2562017899
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401539-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401539G>C , CM000681.2:g.1401539G>C GRCh38
NC_000019.9:g.1401538G>C , CM000681.1:g.1401538G>C GRCh37
NC_000019.8:g.1352538G>C NCBI36
NG_009785.1:g.5015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-63C>G MANE Select ENSP00000252288.1:n.-63C>G
ENST00000447102.8:c.-63C>G ENSP00000403536.2:n.-63C>G
ENST00000252288.6:c.-63C>G ENSP00000252288.1:n.-63C>G
ENST00000447102.7:c.-63C>G ENSP00000403536.2:n.-63C>G
NM_000156.5:c.-63C>G NP_000147.1:n.-63C>G
NM_138924.2:c.-63C>G NP_620279.1:n.-63C>G
NM_000156.6:c.-63C>G MANE Select NP_000147.1:n.-63C>G
NM_138924.3:c.-63C>G NP_620279.1:n.-63C>G