Canonical Allele Identifier: CA2697557733

Gene: GALT

Linked Data

• ClinVar Variation Id: 2693525
• ClinVar RCV Id: RCV003502772

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648330A>T , CM000671.2:g.34648330A>T	GRCh38
NC_000009.11:g.34648327A>T , CM000671.1:g.34648327A>T	GRCh37
NC_000009.10:g.34638327A>T	NCBI36
NG_009029.1:g.6693A>T
NG_028966.1:g.1146A>T
NG_009029.2:g.6742A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*153-4A>T	ENSP00000509954.1:n.*153-4A>T
ENST00000378842.8:c.565-4A>T MANE Select	ENSP00000368119.4:n.565-4A>T
ENST00000378842.7:c.565-4A>T	ENSP00000368119.3:n.565-4A>T
ENST00000450095.6:c.238-4A>T	ENSP00000401956.2:n.238-4A>T
ENST00000472111.5:n.821-4A>T
ENST00000473506.6:c.*153-4A>T	ENSP00000432839.2:n.*153-4A>T
ENST00000473529.5:n.724-4A>T
ENST00000485531.1:n.1159-4A>T
ENST00000487381.5:n.950-4A>T
ENST00000489643.6:n.340-4A>T
ENST00000554085.5:c.*309-4A>T	ENSP00000450419.1:n.*309-4A>T
ENST00000554139.5:n.811-4A>T
ENST00000554550.5:c.*185-4A>T	ENSP00000451435.1:n.*185-4A>T
ENST00000554638.5:n.1037-4A>T
ENST00000554897.5:c.*252-4A>T	ENSP00000450942.1:n.*252-4A>T
ENST00000554944.5:n.914-4A>T
ENST00000555020.5:n.721-4A>T
ENST00000555086.5:n.569-4A>T
ENST00000555214.5:n.386-4A>T
ENST00000556244.1:c.552-4A>T
ENST00000556278.1:c.310-4A>T	ENSP00000451792.1:n.310-4A>T
ENST00000556494.5:n.686-4A>T
ENST00000557706.5:n.1127-4A>T
NM_000155.3:c.565-4A>T	NP_000146.2:n.565-4A>T
NM_001258332.1:c.238-4A>T	NP_001245261.1:n.238-4A>T
NM_000155.4:c.565-4A>T MANE Select	NP_000146.2:n.565-4A>T
NM_001258332.2:c.238-4A>T	NP_001245261.1:n.238-4A>T