Canonical Allele Identifier: CA304067169

Gene: GAMT

Linked Data

• dbSNP Id: rs1054706117
• gnomAD v4: 19-1401150-G-A
• MyVariant Identifiers: chr19:g.1401149G>A (hg19) ; chr19:g.1401150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401150G>A , CM000681.2:g.1401150G>A	GRCh38
NC_000019.9:g.1401149G>A , CM000681.1:g.1401149G>A	GRCh37
NC_000019.8:g.1352149G>A	NCBI36
NG_009785.1:g.5404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+146C>T MANE Select	ENSP00000252288.1:n.181+146C>T
ENST00000447102.8:c.181+146C>T	ENSP00000403536.2:n.181+146C>T
ENST00000640762.1:c.112+215C>T	ENSP00000492031.1:n.112+215C>T
ENST00000252288.6:c.181+146C>T	ENSP00000252288.1:n.181+146C>T
ENST00000447102.7:c.181+146C>T	ENSP00000403536.2:n.181+146C>T
NM_000156.5:c.181+146C>T	NP_000147.1:n.181+146C>T
NM_138924.2:c.181+146C>T	NP_620279.1:n.181+146C>T
NM_000156.6:c.181+146C>T MANE Select	NP_000147.1:n.181+146C>T
NM_138924.3:c.181+146C>T	NP_620279.1:n.181+146C>T