Canonical Allele Identifier: CA259511

Gene: GALT

Linked Data

• ClinVar Variation Id: 25271
• ClinVar RCV Id: RCV000022213
• dbSNP Id: rs111033776
• ExAC: 9:34648949 G / T
• gnomAD v2: 9-34648949-G-T
• gnomAD v3: 9-34648952-G-T
• gnomAD v4: 9-34648952-G-T
• MyVariant Identifiers: chr9:g.34648949G>T (hg19) ; chr9:g.34648952G>T (hg38)
• PubMed: PMID:10649501

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648952G>T , CM000671.2:g.34648952G>T	GRCh38
NC_000009.11:g.34648949G>T , CM000671.1:g.34648949G>T	GRCh37
NC_000009.10:g.34638949G>T	NCBI36
NG_009029.1:g.7315G>T
NG_028966.1:g.1768G>T
NG_009029.2:g.7364G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*409-46G>T	ENSP00000509954.1:n.*409-46G>T
ENST00000378842.8:c.821-46G>T MANE Select	ENSP00000368119.4:n.821-46G>T
ENST00000378842.7:c.821-46G>T	ENSP00000368119.3:n.821-46G>T
ENST00000450095.6:c.494-46G>T	ENSP00000401956.2:n.494-46G>T
ENST00000488412.2:n.31G>T
ENST00000489643.6:n.901-46G>T
ENST00000554085.5:c.*565-46G>T	ENSP00000450419.1:n.*565-46G>T
ENST00000554550.5:c.*441-46G>T	ENSP00000451435.1:n.*441-46G>T
ENST00000554638.5:n.1293-46G>T
ENST00000555020.5:n.1282-46G>T
ENST00000555086.5:n.882G>T
ENST00000555754.1:n.223G>T
ENST00000556278.1:c.432+496G>T	ENSP00000451792.1:n.432+496G>T
ENST00000557706.5:n.1396-46G>T
NM_000155.3:c.821-46G>T	NP_000146.2:n.821-46G>T
NM_001258332.1:c.494-46G>T	NP_001245261.1:n.494-46G>T
NM_000155.4:c.821-46G>T MANE Select	NP_000146.2:n.821-46G>T
NM_001258332.2:c.494-46G>T	NP_001245261.1:n.494-46G>T