Canonical Allele Identifier: CA631044787
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2748670
ClinVar RCV Id: RCV003587659
dbSNP Id: rs1231822946
gnomAD v2: 19-1399941-G-A
gnomAD v4: 19-1399942-G-A
MyVariant Identifiers: chr19:g.1399941G>A (hg19) chr19:g.1399942G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399942G>A , CM000681.2:g.1399942G>A GRCh38
NC_000019.9:g.1399941G>A , CM000681.1:g.1399941G>A GRCh37
NC_000019.8:g.1350941G>A NCBI36
NG_009785.1:g.6612C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-4C>T MANE Select ENSP00000252288.1:n.182-4C>T
ENST00000447102.8:c.182-4C>T ENSP00000403536.2:n.182-4C>T
ENST00000640762.1:c.113-4C>T ENSP00000492031.1:n.113-4C>T
ENST00000252288.6:c.182-4C>T ENSP00000252288.1:n.182-4C>T
ENST00000447102.7:c.182-4C>T ENSP00000403536.2:n.182-4C>T
NM_000156.5:c.182-4C>T NP_000147.1:n.182-4C>T
NM_138924.2:c.182-4C>T NP_620279.1:n.182-4C>T
NM_000156.6:c.182-4C>T MANE Select NP_000147.1:n.182-4C>T
NM_138924.3:c.182-4C>T NP_620279.1:n.182-4C>T
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