Canonical Allele Identifier: CA587568395

Gene: GALT

Linked Data

• dbSNP Id: rs1228472576
• gnomAD v2: 9-34648320-C-T
• gnomAD v4: 9-34648323-C-T
• MyVariant Identifiers: chr9:g.34648320C>T (hg19) ; chr9:g.34648323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648323C>T , CM000671.2:g.34648323C>T	GRCh38
NC_000009.11:g.34648320C>T , CM000671.1:g.34648320C>T	GRCh37
NC_000009.10:g.34638320C>T	NCBI36
NG_009029.1:g.6686C>T
NG_028966.1:g.1139C>T
NG_009029.2:g.6735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*153-11C>T	ENSP00000509954.1:n.*153-11C>T
ENST00000378842.8:c.565-11C>T MANE Select	ENSP00000368119.4:n.565-11C>T
ENST00000378842.7:c.565-11C>T	ENSP00000368119.3:n.565-11C>T
ENST00000450095.6:c.238-11C>T	ENSP00000401956.2:n.238-11C>T
ENST00000472111.5:n.821-11C>T
ENST00000473506.6:c.*153-11C>T	ENSP00000432839.2:n.*153-11C>T
ENST00000473529.5:n.724-11C>T
ENST00000485531.1:n.1159-11C>T
ENST00000487381.5:n.950-11C>T
ENST00000489643.6:n.340-11C>T
ENST00000554085.5:c.*309-11C>T	ENSP00000450419.1:n.*309-11C>T
ENST00000554139.5:n.811-11C>T
ENST00000554550.5:c.*185-11C>T	ENSP00000451435.1:n.*185-11C>T
ENST00000554638.5:n.1037-11C>T
ENST00000554897.5:c.*252-11C>T	ENSP00000450942.1:n.*252-11C>T
ENST00000554944.5:n.914-11C>T
ENST00000555020.5:n.721-11C>T
ENST00000555086.5:n.569-11C>T
ENST00000555214.5:n.386-11C>T
ENST00000556244.1:c.552-11C>T
ENST00000556278.1:c.310-11C>T	ENSP00000451792.1:n.310-11C>T
ENST00000556494.5:n.686-11C>T
ENST00000557706.5:n.1127-11C>T
NM_000155.3:c.565-11C>T	NP_000146.2:n.565-11C>T
NM_001258332.1:c.238-11C>T	NP_001245261.1:n.238-11C>T
NM_000155.4:c.565-11C>T MANE Select	NP_000146.2:n.565-11C>T
NM_001258332.2:c.238-11C>T	NP_001245261.1:n.238-11C>T