Canonical Allele Identifier: CA9043544

Gene: GAMT

Linked Data

• ClinVar Variation Id: 516284
• ClinVar RCV Id: RCV000604315 ; RCV001442050 ; RCV001702813
• dbSNP Id: rs746723263
• ExAC: 19:1397427 C / T
• gnomAD v2: 19-1397427-C-T
• gnomAD v3: 19-1397428-C-T
• gnomAD v4: 19-1397428-C-T
• MyVariant Identifiers: chr19:g.1397427C>T (hg19) ; chr19:g.1397428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397428C>T , CM000681.2:g.1397428C>T	GRCh38
NC_000019.9:g.1397427C>T , CM000681.1:g.1397427C>T	GRCh37
NC_000019.8:g.1348427C>T	NCBI36
NG_008283.1:g.18545C>T
NG_009785.1:g.9126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.642G>A MANE Select	ENSP00000252288.1:p.Leu214=
ENST00000640164.1:n.475G>A
ENST00000640762.1:c.573G>A	ENSP00000492031.1:p.Leu191=
ENST00000252288.6:c.642G>A	ENSP00000252288.1:p.Leu214=
NM_000156.5:c.642G>A	NP_000147.1:p.Leu214=
NM_000156.6:c.642G>A MANE Select	NP_000147.1:p.Leu214=