Canonical Allele Identifier: CA373284412

Gene: GALT

Linked Data

• dbSNP Id: rs1300401918
• MyVariant Identifiers: chr9:g.34649048A>G (hg19) ; chr9:g.34649051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649051A>G , CM000671.2:g.34649051A>G	GRCh38
NC_000009.11:g.34649048A>G , CM000671.1:g.34649048A>G	GRCh37
NC_000009.10:g.34639048A>G	NCBI36
NG_009029.1:g.7414A>G
NG_028966.1:g.1867A>G
NG_009029.2:g.7463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*462A>G	ENSP00000509954.1:n.*462A>G
ENST00000378842.8:c.874A>G MANE Select	ENSP00000368119.4:p.Thr292Ala
ENST00000378842.7:c.874A>G	ENSP00000368119.3:p.Thr292Ala
ENST00000450095.6:c.547A>G	ENSP00000401956.2:p.Thr183Ala
ENST00000488412.2:n.130A>G
ENST00000489643.6:n.954A>G
ENST00000554550.5:c.*494A>G	ENSP00000451435.1:n.*494A>G
ENST00000554638.5:n.1346A>G
ENST00000555020.5:n.1335A>G
ENST00000555086.5:n.981A>G
ENST00000555754.1:n.322A>G
ENST00000556278.1:c.432+595A>G	ENSP00000451792.1:n.432+595A>G
ENST00000557706.5:n.1449A>G
NM_000155.3:c.874A>G	NP_000146.2:p.Thr292Ala
NM_001258332.1:c.547A>G	NP_001245261.1:p.Thr183Ala
NM_000155.4:c.874A>G MANE Select	NP_000146.2:p.Thr292Ala
NM_001258332.2:c.547A>G	NP_001245261.1:p.Thr183Ala