Canonical Allele Identifier: CA631301045
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1264005098
gnomAD v2: 19-1401247-C-T
gnomAD v3: 19-1401248-C-T
gnomAD v4: 19-1401248-C-T
MyVariant Identifiers: chr19:g.1401247C>T (hg19) chr19:g.1401248C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401248C>T , CM000681.2:g.1401248C>T GRCh38
NC_000019.9:g.1401247C>T , CM000681.1:g.1401247C>T GRCh37
NC_000019.8:g.1352247C>T NCBI36
NG_009785.1:g.5306G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.181+48G>A MANE Select ENSP00000252288.1:n.181+48G>A
ENST00000447102.8:c.181+48G>A ENSP00000403536.2:n.181+48G>A
ENST00000640762.1:c.112+117G>A ENSP00000492031.1:n.112+117G>A
ENST00000252288.6:c.181+48G>A ENSP00000252288.1:n.181+48G>A
ENST00000447102.7:c.181+48G>A ENSP00000403536.2:n.181+48G>A
NM_000156.5:c.181+48G>A NP_000147.1:n.181+48G>A
NM_138924.2:c.181+48G>A NP_620279.1:n.181+48G>A
NM_000156.6:c.181+48G>A MANE Select NP_000147.1:n.181+48G>A
NM_138924.3:c.181+48G>A NP_620279.1:n.181+48G>A
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