Canonical Allele Identifier: CA9043748

Gene: GAMT

Linked Data

• dbSNP Id: rs773283573
• ExAC: 19:1399829 T / G
• gnomAD v2: 19-1399829-T-G
• gnomAD v4: 19-1399830-T-G
• MyVariant Identifiers: chr19:g.1399829T>G (hg19) ; chr19:g.1399830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399830T>G , CM000681.2:g.1399830T>G	GRCh38
NC_000019.9:g.1399829T>G , CM000681.1:g.1399829T>G	GRCh37
NC_000019.8:g.1350829T>G	NCBI36
NG_009785.1:g.6724A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.290A>C MANE Select	ENSP00000252288.1:p.Gln97Pro
ENST00000447102.8:c.290A>C	ENSP00000403536.2:p.Gln97Pro
ENST00000640762.1:c.221A>C	ENSP00000492031.1:p.Gln74Pro
ENST00000252288.6:c.290A>C	ENSP00000252288.1:p.Gln97Pro
ENST00000447102.7:c.290A>C	ENSP00000403536.2:p.Gln97Pro
NM_000156.5:c.290A>C	NP_000147.1:p.Gln97Pro
NM_138924.2:c.290A>C	NP_620279.1:p.Gln97Pro
NM_000156.6:c.290A>C MANE Select	NP_000147.1:p.Gln97Pro
NM_138924.3:c.290A>C	NP_620279.1:p.Gln97Pro