Canonical Allele Identifier: CA631300630

Gene: GAMT

Linked Data

• dbSNP Id: rs1298767114
• gnomAD v2: 19-1398867-T-TCCAA
• gnomAD v4: 19-1398868-T-TCCAA
• MyVariant Identifiers: chr19:g.1398867_1398868insCCAA (hg19) ; chr19:g.1398868_1398869insCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398869_1398872dup , CM000681.2:g.1398869_1398872dup	GRCh38
NC_000019.9:g.1398868_1398871dup , CM000681.1:g.1398868_1398871dup	GRCh37
NC_000019.8:g.1349868_1349871dup	NCBI36
NG_009785.1:g.7682_7685dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+44_570+47dup MANE Select	ENSP00000252288.1:n.570+44_570+47dup
ENST00000447102.8:c.614_617dup	ENSP00000403536.2:p.Gly208MetfsTer?
ENST00000591788.3:c.253+44_253+47dup
ENST00000640164.1:n.403+44_403+47dup
ENST00000640762.1:c.501+44_501+47dup	ENSP00000492031.1:n.501+44_501+47dup
ENST00000252288.6:c.570+44_570+47dup	ENSP00000252288.1:n.570+44_570+47dup
ENST00000447102.7:c.614_617dup	ENSP00000403536.2:p.Gly208MetfsTer?
ENST00000591788.2:c.255+44_255+47dup	ENSP00000466341.2:n.255+44_255+47dup
NM_000156.5:c.570+44_570+47dup	NP_000147.1:n.570+44_570+47dup
NM_138924.2:c.614_617dup	NP_620279.1:p.Gly208MetfsTer?
NM_000156.6:c.570+44_570+47dup MANE Select	NP_000147.1:n.570+44_570+47dup
NM_138924.3:c.614_617dup	NP_620279.1:p.Gly208MetfsTer?