Canonical Allele Identifier: CA314778
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205565
ClinVar RCV Id: RCV000187548 RCV000866408
dbSNP Id: rs779679242
ExAC: 19:1399807 T / C
gnomAD v2: 19-1399807-T-C
gnomAD v3: 19-1399808-T-C
gnomAD v4: 19-1399808-T-C
MyVariant Identifiers: chr19:g.1399807T>C (hg19) chr19:g.1399808T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399808T>C , CM000681.2:g.1399808T>C GRCh38
NC_000019.9:g.1399807T>C , CM000681.1:g.1399807T>C GRCh37
NC_000019.8:g.1350807T>C NCBI36
NG_009785.1:g.6746A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.312A>G MANE Select ENSP00000252288.1:p.Pro104=
ENST00000447102.8:c.312A>G ENSP00000403536.2:p.Pro104=
ENST00000640762.1:c.243A>G ENSP00000492031.1:p.Pro81=
ENST00000252288.6:c.312A>G ENSP00000252288.1:p.Pro104=
ENST00000447102.7:c.312A>G ENSP00000403536.2:p.Pro104=
NM_000156.5:c.312A>G NP_000147.1:p.Pro104=
NM_138924.2:c.312A>G NP_620279.1:p.Pro104=
NM_000156.6:c.312A>G MANE Select NP_000147.1:p.Pro104=
NM_138924.3:c.312A>G NP_620279.1:p.Pro104=
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