Canonical Allele Identifier: CA9043774
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2063371
ClinVar RCV Id: RCV002948402
dbSNP Id: rs759090430
ExAC: 19:1399954 C / T
gnomAD v2: 19-1399954-C-T
gnomAD v4: 19-1399955-C-T
MyVariant Identifiers: chr19:g.1399954C>T (hg19) chr19:g.1399955C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399955C>T , CM000681.2:g.1399955C>T GRCh38
NC_000019.9:g.1399954C>T , CM000681.1:g.1399954C>T GRCh37
NC_000019.8:g.1350954C>T NCBI36
NG_009785.1:g.6599G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-17G>A MANE Select ENSP00000252288.1:n.182-17G>A
ENST00000447102.8:c.182-17G>A ENSP00000403536.2:n.182-17G>A
ENST00000640762.1:c.113-17G>A ENSP00000492031.1:n.113-17G>A
ENST00000252288.6:c.182-17G>A ENSP00000252288.1:n.182-17G>A
ENST00000447102.7:c.182-17G>A ENSP00000403536.2:n.182-17G>A
NM_000156.5:c.182-17G>A NP_000147.1:n.182-17G>A
NM_138924.2:c.182-17G>A NP_620279.1:n.182-17G>A
NM_000156.6:c.182-17G>A MANE Select NP_000147.1:n.182-17G>A
NM_138924.3:c.182-17G>A NP_620279.1:n.182-17G>A
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