Canonical Allele Identifier: CA373279184

Gene: GALT

Linked Data

• gnomAD v4: 9-34647519-C-G
• MyVariant Identifiers: chr9:g.34647516C>G (hg19) ; chr9:g.34647519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647519C>G , CM000671.2:g.34647519C>G	GRCh38
NC_000009.11:g.34647516C>G , CM000671.1:g.34647516C>G	GRCh37
NC_000009.10:g.34637516C>G	NCBI36
NG_009029.1:g.5882C>G
NG_028966.1:g.335C>G
NG_009029.2:g.5931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.280C>G	ENSP00000509954.1:p.Leu94Val
ENST00000378842.8:c.280C>G MANE Select	ENSP00000368119.4:p.Leu94Val
ENST00000378842.7:c.280C>G	ENSP00000368119.3:p.Leu94Val
ENST00000450095.6:c.50+261C>G	ENSP00000401956.2:n.50+261C>G
ENST00000465543.6:n.619C>G
ENST00000472111.5:n.321C>G
ENST00000473506.6:c.253-22C>G	ENSP00000432839.2:n.253-22C>G
ENST00000473529.5:n.327C>G
ENST00000485531.1:n.506C>G
ENST00000487381.5:n.539C>G
ENST00000489643.6:n.282+261C>G
ENST00000554085.5:c.*24C>G	ENSP00000450419.1:n.*24C>G
ENST00000554139.5:n.333C>G
ENST00000554330.5:n.250-22C>G
ENST00000554550.5:c.252+261C>G	ENSP00000451435.1:n.252+261C>G
ENST00000554638.5:n.537C>G
ENST00000554897.5:c.252+261C>G	ENSP00000450942.1:n.252+261C>G
ENST00000554944.5:n.283-22C>G
ENST00000555020.5:n.310C>G
ENST00000555086.5:n.284C>G
ENST00000555214.5:n.261+261C>G
ENST00000556157.1:n.404C>G
ENST00000556244.1:c.267C>G
ENST00000556278.1:c.252+261C>G	ENSP00000451792.1:n.252+261C>G
ENST00000556403.5:n.293C>G
ENST00000556494.5:n.312C>G
ENST00000557541.5:n.446-22C>G
ENST00000557706.5:n.627C>G
NM_000155.3:c.280C>G	NP_000146.2:p.Leu94Val
NM_001258332.1:c.50+261C>G	NP_001245261.1:n.50+261C>G
NM_000155.4:c.280C>G MANE Select	NP_000146.2:p.Leu94Val
NM_001258332.2:c.50+261C>G	NP_001245261.1:n.50+261C>G