Canonical Allele Identifier: CA2689808730

Gene: GALT

Linked Data

• ClinVar Variation Id: 2832258
• ClinVar RCV Id: RCV003610483
• gnomAD v4: 9-34648325-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648325C>T , CM000671.2:g.34648325C>T	GRCh38
NC_000009.11:g.34648322C>T , CM000671.1:g.34648322C>T	GRCh37
NC_000009.10:g.34638322C>T	NCBI36
NG_009029.1:g.6688C>T
NG_028966.1:g.1141C>T
NG_009029.2:g.6737C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*153-9C>T	ENSP00000509954.1:n.*153-9C>T
ENST00000378842.8:c.565-9C>T MANE Select	ENSP00000368119.4:n.565-9C>T
ENST00000378842.7:c.565-9C>T	ENSP00000368119.3:n.565-9C>T
ENST00000450095.6:c.238-9C>T	ENSP00000401956.2:n.238-9C>T
ENST00000472111.5:n.821-9C>T
ENST00000473506.6:c.*153-9C>T	ENSP00000432839.2:n.*153-9C>T
ENST00000473529.5:n.724-9C>T
ENST00000485531.1:n.1159-9C>T
ENST00000487381.5:n.950-9C>T
ENST00000489643.6:n.340-9C>T
ENST00000554085.5:c.*309-9C>T	ENSP00000450419.1:n.*309-9C>T
ENST00000554139.5:n.811-9C>T
ENST00000554550.5:c.*185-9C>T	ENSP00000451435.1:n.*185-9C>T
ENST00000554638.5:n.1037-9C>T
ENST00000554897.5:c.*252-9C>T	ENSP00000450942.1:n.*252-9C>T
ENST00000554944.5:n.914-9C>T
ENST00000555020.5:n.721-9C>T
ENST00000555086.5:n.569-9C>T
ENST00000555214.5:n.386-9C>T
ENST00000556244.1:c.552-9C>T
ENST00000556278.1:c.310-9C>T	ENSP00000451792.1:n.310-9C>T
ENST00000556494.5:n.686-9C>T
ENST00000557706.5:n.1127-9C>T
NM_000155.3:c.565-9C>T	NP_000146.2:n.565-9C>T
NM_001258332.1:c.238-9C>T	NP_001245261.1:n.238-9C>T
NM_000155.4:c.565-9C>T MANE Select	NP_000146.2:n.565-9C>T
NM_001258332.2:c.238-9C>T	NP_001245261.1:n.238-9C>T