Canonical Allele Identifier: CA373279256

Gene: GALT

Linked Data

• ClinVar Variation Id: 858290
• ClinVar RCV Id: RCV001064136
• dbSNP Id: rs1223049216
• MyVariant Identifiers: chr9:g.34647531T>A (hg19) ; chr9:g.34647534T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647534T>A , CM000671.2:g.34647534T>A	GRCh38
NC_000009.11:g.34647531T>A , CM000671.1:g.34647531T>A	GRCh37
NC_000009.10:g.34637531T>A	NCBI36
NG_009029.1:g.5897T>A
NG_028966.1:g.350T>A
NG_009029.2:g.5946T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.295T>A	ENSP00000509954.1:p.Phe99Ile
ENST00000378842.8:c.295T>A MANE Select	ENSP00000368119.4:p.Phe99Ile
ENST00000378842.7:c.295T>A	ENSP00000368119.3:p.Phe99Ile
ENST00000450095.6:c.50+276T>A	ENSP00000401956.2:n.50+276T>A
ENST00000465543.6:n.634T>A
ENST00000472111.5:n.336T>A
ENST00000473506.6:c.253-7T>A	ENSP00000432839.2:n.253-7T>A
ENST00000473529.5:n.342T>A
ENST00000485531.1:n.521T>A
ENST00000487381.5:n.554T>A
ENST00000489643.6:n.282+276T>A
ENST00000554085.5:c.*39T>A	ENSP00000450419.1:n.*39T>A
ENST00000554139.5:n.348T>A
ENST00000554330.5:n.250-7T>A
ENST00000554550.5:c.252+276T>A	ENSP00000451435.1:n.252+276T>A
ENST00000554638.5:n.552T>A
ENST00000554897.5:c.252+276T>A	ENSP00000450942.1:n.252+276T>A
ENST00000554944.5:n.283-7T>A
ENST00000555020.5:n.325T>A
ENST00000555086.5:n.299T>A
ENST00000555214.5:n.261+276T>A
ENST00000556157.1:n.419T>A
ENST00000556244.1:c.282T>A
ENST00000556278.1:c.252+276T>A	ENSP00000451792.1:n.252+276T>A
ENST00000556403.5:n.308T>A
ENST00000556494.5:n.327T>A
ENST00000557541.5:n.446-7T>A
ENST00000557706.5:n.642T>A
NM_000155.3:c.295T>A	NP_000146.2:p.Phe99Ile
NM_001258332.1:c.50+276T>A	NP_001245261.1:n.50+276T>A
NM_000155.4:c.295T>A MANE Select	NP_000146.2:p.Phe99Ile
NM_001258332.2:c.50+276T>A	NP_001245261.1:n.50+276T>A