Canonical Allele Identifier: CA402994650

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399002C>G (hg19) ; chr19:g.1399003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399003C>G , CM000681.2:g.1399003C>G	GRCh38
NC_000019.9:g.1399002C>G , CM000681.1:g.1399002C>G	GRCh37
NC_000019.8:g.1350002C>G	NCBI36
NG_009785.1:g.7551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.483G>C MANE Select	ENSP00000252288.1:p.Lys161Asn
ENST00000447102.8:c.483G>C	ENSP00000403536.2:p.Lys161Asn
ENST00000591788.3:c.166G>C
ENST00000640164.1:n.316G>C
ENST00000640762.1:c.414G>C	ENSP00000492031.1:p.Lys138Asn
ENST00000252288.6:c.483G>C	ENSP00000252288.1:p.Lys161Asn
ENST00000447102.7:c.483G>C	ENSP00000403536.2:p.Lys161Asn
ENST00000591788.2:c.168G>C	ENSP00000466341.2:p.Lys56Asn
NM_000156.5:c.483G>C	NP_000147.1:p.Lys161Asn
NM_138924.2:c.483G>C	NP_620279.1:p.Lys161Asn
NM_000156.6:c.483G>C MANE Select	NP_000147.1:p.Lys161Asn
NM_138924.3:c.483G>C	NP_620279.1:p.Lys161Asn