Canonical Allele Identifier: CA402998135

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1051517
• ClinVar RCV Id: RCV001359569
• dbSNP Id: rs2144641138
• gnomAD v4: 19-1401362-T-G
• MyVariant Identifiers: chr19:g.1401361T>G (hg19) ; chr19:g.1401362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401362T>G , CM000681.2:g.1401362T>G	GRCh38
NC_000019.9:g.1401361T>G , CM000681.1:g.1401361T>G	GRCh37
NC_000019.8:g.1352361T>G	NCBI36
NG_009785.1:g.5192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.115A>C MANE Select	ENSP00000252288.1:p.Lys39Gln
ENST00000447102.8:c.115A>C	ENSP00000403536.2:p.Lys39Gln
ENST00000640762.1:c.112+3A>C	ENSP00000492031.1:n.112+3A>C
ENST00000252288.6:c.115A>C	ENSP00000252288.1:p.Lys39Gln
ENST00000447102.7:c.115A>C	ENSP00000403536.2:p.Lys39Gln
NM_000156.5:c.115A>C	NP_000147.1:p.Lys39Gln
NM_138924.2:c.115A>C	NP_620279.1:p.Lys39Gln
NM_000156.6:c.115A>C MANE Select	NP_000147.1:p.Lys39Gln
NM_138924.3:c.115A>C	NP_620279.1:p.Lys39Gln