Canonical Allele Identifier: CA373284768

Gene: GALT

Linked Data

• ClinVar Variation Id: 914566
• ClinVar RCV Id: RCV001168794
• dbSNP Id: rs771975129
• gnomAD v4: 9-34649441-C-G
• MyVariant Identifiers: chr9:g.34649438C>G (hg19) ; chr9:g.34649441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649441C>G , CM000671.2:g.34649441C>G	GRCh38
NC_000009.11:g.34649438C>G , CM000671.1:g.34649438C>G	GRCh37
NC_000009.10:g.34639438C>G	NCBI36
NG_009029.1:g.7804C>G
NG_028966.1:g.2257C>G
NG_009029.2:g.7853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*524C>G	ENSP00000509954.1:n.*524C>G
ENST00000378842.8:c.936C>G MANE Select	ENSP00000368119.4:p.Asn312Lys
ENST00000378842.7:c.936C>G	ENSP00000368119.3:p.Asn312Lys
ENST00000450095.6:c.609C>G	ENSP00000401956.2:p.Asn203Lys
ENST00000488412.2:n.520C>G
ENST00000489643.6:n.1344C>G
ENST00000554550.5:c.*556C>G	ENSP00000451435.1:n.*556C>G
ENST00000554638.5:n.1408C>G
ENST00000555020.5:n.1725C>G
ENST00000555754.1:n.384C>G
ENST00000556278.1:c.432+985C>G	ENSP00000451792.1:n.432+985C>G
ENST00000557706.5:n.1511C>G
NM_000155.3:c.936C>G	NP_000146.2:p.Asn312Lys
NM_001258332.1:c.609C>G	NP_001245261.1:p.Asn203Lys
NM_000155.4:c.936C>G MANE Select	NP_000146.2:p.Asn312Lys
NM_001258332.2:c.609C>G	NP_001245261.1:p.Asn203Lys