Canonical Allele Identifier: CA373281920

Gene: GALT

Linked Data

• ClinVar Variation Id: 2839457
• ClinVar RCV Id: RCV003608757
• dbSNP Id: rs1821163303
• MyVariant Identifiers: chr9:g.34648352C>G (hg19) ; chr9:g.34648355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648355C>G , CM000671.2:g.34648355C>G	GRCh38
NC_000009.11:g.34648352C>G , CM000671.1:g.34648352C>G	GRCh37
NC_000009.10:g.34638352C>G	NCBI36
NG_009029.1:g.6718C>G
NG_028966.1:g.1171C>G
NG_009029.2:g.6767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*174C>G	ENSP00000509954.1:n.*174C>G
ENST00000378842.8:c.586C>G MANE Select	ENSP00000368119.4:p.Pro196Ala
ENST00000378842.7:c.586C>G	ENSP00000368119.3:p.Pro196Ala
ENST00000450095.6:c.259C>G	ENSP00000401956.2:p.Pro87Ala
ENST00000472111.5:n.842C>G
ENST00000473506.6:c.*174C>G	ENSP00000432839.2:n.*174C>G
ENST00000473529.5:n.745C>G
ENST00000485531.1:n.1180C>G
ENST00000487381.5:n.971C>G
ENST00000489643.6:n.361C>G
ENST00000554085.5:c.*330C>G	ENSP00000450419.1:n.*330C>G
ENST00000554139.5:n.832C>G
ENST00000554550.5:c.*206C>G	ENSP00000451435.1:n.*206C>G
ENST00000554638.5:n.1058C>G
ENST00000554897.5:c.*273C>G	ENSP00000450942.1:n.*273C>G
ENST00000554944.5:n.935C>G
ENST00000555020.5:n.742C>G
ENST00000555086.5:n.590C>G
ENST00000555214.5:n.407C>G
ENST00000556244.1:c.573C>G
ENST00000556278.1:c.331C>G	ENSP00000451792.1:p.Pro111Ala
ENST00000556494.5:n.707C>G
ENST00000557706.5:n.1148C>G
NM_000155.3:c.586C>G	NP_000146.2:p.Pro196Ala
NM_001258332.1:c.259C>G	NP_001245261.1:p.Pro87Ala
NM_000155.4:c.586C>G MANE Select	NP_000146.2:p.Pro196Ala
NM_001258332.2:c.259C>G	NP_001245261.1:p.Pro87Ala