Canonical Allele Identifier: CA504895160
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398995_1398996insG , CM000681.2:g.1398995_1398996insG GRCh38
NC_000019.9:g.1398994_1398995insG , CM000681.1:g.1398994_1398995insG GRCh37
NC_000019.8:g.1349994_1349995insG NCBI36
NG_009785.1:g.7558_7559insC

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.490_491insC MANE Select ENSP00000252288.1:p.Gly164AlafsTer27
ENST00000447102.8:c.490_491insC ENSP00000403536.2:p.Gly164AlafsTer27
ENST00000591788.3:c.173_174insC
ENST00000640164.1:n.323_324insC
ENST00000640762.1:c.421_422insC ENSP00000492031.1:p.Gly141AlafsTer27
ENST00000252288.6:c.490_491insC ENSP00000252288.1:p.Gly164AlafsTer27
ENST00000447102.7:c.490_491insC ENSP00000403536.2:p.Gly164AlafsTer27
ENST00000591788.2:c.175_176insC ENSP00000466341.2:p.Gly59AlafsTer27
NM_000156.5:c.490_491insC NP_000147.1:p.Gly164AlafsTer27
NM_138924.2:c.490_491insC NP_620279.1:p.Gly164AlafsTer27
NM_000156.6:c.490_491insC MANE Select NP_000147.1:p.Gly164AlafsTer27
NM_138924.3:c.490_491insC NP_620279.1:p.Gly164AlafsTer27