Canonical Allele Identifier: CA373279964

Gene: GALT

Linked Data

• ClinVar Variation Id: 2159307
• ClinVar RCV Id: RCV003093752
• MyVariant Identifiers: chr9:g.34647534C>G (hg19) ; chr9:g.34647537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647537C>G , CM000671.2:g.34647537C>G	GRCh38
NC_000009.11:g.34647534C>G , CM000671.1:g.34647534C>G	GRCh37
NC_000009.10:g.34637534C>G	NCBI36
NG_009029.1:g.5900C>G
NG_028966.1:g.353C>G
NG_009029.2:g.5949C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.298C>G	ENSP00000509954.1:p.Pro100Ala
ENST00000378842.8:c.298C>G MANE Select	ENSP00000368119.4:p.Pro100Ala
ENST00000378842.7:c.298C>G	ENSP00000368119.3:p.Pro100Ala
ENST00000450095.6:c.50+279C>G	ENSP00000401956.2:n.50+279C>G
ENST00000465543.6:n.637C>G
ENST00000472111.5:n.339C>G
ENST00000473506.6:c.253-4C>G	ENSP00000432839.2:n.253-4C>G
ENST00000473529.5:n.345C>G
ENST00000485531.1:n.524C>G
ENST00000487381.5:n.557C>G
ENST00000489643.6:n.282+279C>G
ENST00000554085.5:c.*42C>G	ENSP00000450419.1:n.*42C>G
ENST00000554139.5:n.351C>G
ENST00000554330.5:n.250-4C>G
ENST00000554550.5:c.252+279C>G	ENSP00000451435.1:n.252+279C>G
ENST00000554638.5:n.555C>G
ENST00000554897.5:c.252+279C>G	ENSP00000450942.1:n.252+279C>G
ENST00000554944.5:n.283-4C>G
ENST00000555020.5:n.328C>G
ENST00000555086.5:n.302C>G
ENST00000555214.5:n.261+279C>G
ENST00000556157.1:n.422C>G
ENST00000556244.1:c.285C>G
ENST00000556278.1:c.252+279C>G	ENSP00000451792.1:n.252+279C>G
ENST00000556403.5:n.311C>G
ENST00000556494.5:n.330C>G
ENST00000557541.5:n.446-4C>G
ENST00000557706.5:n.645C>G
NM_000155.3:c.298C>G	NP_000146.2:p.Pro100Ala
NM_001258332.1:c.50+279C>G	NP_001245261.1:n.50+279C>G
NM_000155.4:c.298C>G MANE Select	NP_000146.2:p.Pro100Ala
NM_001258332.2:c.50+279C>G	NP_001245261.1:n.50+279C>G