Canonical Allele Identifier: CA373284775

Gene: GALT

Linked Data

• ClinVar Variation Id: 551291
• ClinVar RCV Id: RCV000666311
• dbSNP Id: rs1410159094
• gnomAD v3: 9-34649443-G-A
• gnomAD v4: 9-34649443-G-A
• MyVariant Identifiers: chr9:g.34649440G>A (hg19) ; chr9:g.34649443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649443G>A , CM000671.2:g.34649443G>A	GRCh38
NC_000009.11:g.34649440G>A , CM000671.1:g.34649440G>A	GRCh37
NC_000009.10:g.34639440G>A	NCBI36
NG_009029.1:g.7806G>A
NG_028966.1:g.2259G>A
NG_009029.2:g.7855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*526G>A	ENSP00000509954.1:n.*526G>A
ENST00000378842.8:c.938G>A MANE Select	ENSP00000368119.4:p.Trp313Ter
ENST00000378842.7:c.938G>A	ENSP00000368119.3:p.Trp313Ter
ENST00000450095.6:c.611G>A	ENSP00000401956.2:p.Trp204Ter
ENST00000488412.2:n.522G>A
ENST00000489643.6:n.1346G>A
ENST00000554550.5:c.*558G>A	ENSP00000451435.1:n.*558G>A
ENST00000554638.5:n.1410G>A
ENST00000555020.5:n.1727G>A
ENST00000555754.1:n.386G>A
ENST00000556278.1:c.432+987G>A	ENSP00000451792.1:n.432+987G>A
ENST00000557706.5:n.1513G>A
NM_000155.3:c.938G>A	NP_000146.2:p.Trp313Ter
NM_001258332.1:c.611G>A	NP_001245261.1:p.Trp204Ter
NM_000155.4:c.938G>A MANE Select	NP_000146.2:p.Trp313Ter
NM_001258332.2:c.611G>A	NP_001245261.1:p.Trp204Ter