Canonical Allele Identifier: CA373285205

Gene: GALT

Linked Data

• ClinVar Variation Id: 2683042
• ClinVar RCV Id: RCV003481909
• MyVariant Identifiers: chr9:g.34649529G>A (hg19) ; chr9:g.34649532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649532G>A , CM000671.2:g.34649532G>A	GRCh38
NC_000009.11:g.34649529G>A , CM000671.1:g.34649529G>A	GRCh37
NC_000009.10:g.34639529G>A	NCBI36
NG_009029.1:g.7895G>A
NG_028966.1:g.2348G>A
NG_009029.2:g.7944G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*615G>A	ENSP00000509954.1:n.*615G>A
ENST00000378842.8:c.1027G>A MANE Select	ENSP00000368119.4:p.Ala343Thr
ENST00000378842.7:c.1027G>A	ENSP00000368119.3:p.Ala343Thr
ENST00000450095.6:c.700G>A	ENSP00000401956.2:p.Ala234Thr
ENST00000488412.2:n.611G>A
ENST00000489643.6:n.1435G>A
ENST00000554550.5:c.*647G>A	ENSP00000451435.1:n.*647G>A
ENST00000554638.5:n.1499G>A
ENST00000555020.5:n.1816G>A
ENST00000555754.1:n.475G>A
ENST00000556278.1:c.432+1076G>A	ENSP00000451792.1:n.432+1076G>A
ENST00000557706.5:n.1602G>A
NM_000155.3:c.1027G>A	NP_000146.2:p.Ala343Thr
NM_001258332.1:c.700G>A	NP_001245261.1:p.Ala234Thr
NM_000155.4:c.1027G>A MANE Select	NP_000146.2:p.Ala343Thr
NM_001258332.2:c.700G>A	NP_001245261.1:p.Ala234Thr