Canonical Allele Identifier: CA220421

Gene: GALT

Linked Data

• ClinVar Variation Id: 92518
• ClinVar RCV Id: RCV000078226
• dbSNP Id: rs398123182
• MyVariant Identifiers: chr9:g.34648166C>A (hg19) ; chr9:g.34648169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648169C>A , CM000671.2:g.34648169C>A	GRCh38
NC_000009.11:g.34648166C>A , CM000671.1:g.34648166C>A	GRCh37
NC_000009.10:g.34638166C>A	NCBI36
NG_009029.1:g.6532C>A
NG_028966.1:g.985C>A
NG_009029.2:g.6581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*150C>A	ENSP00000509954.1:n.*150C>A
ENST00000378842.8:c.562C>A MANE Select	ENSP00000368119.4:p.Gln188Lys
ENST00000378842.7:c.562C>A	ENSP00000368119.3:p.Gln188Lys
ENST00000450095.6:c.235C>A	ENSP00000401956.2:p.Gln79Lys
ENST00000465543.6:n.901C>A
ENST00000472111.5:n.818C>A
ENST00000473506.6:c.*150C>A	ENSP00000432839.2:n.*150C>A
ENST00000473529.5:n.721C>A
ENST00000485531.1:n.1156C>A
ENST00000487381.5:n.947C>A
ENST00000489643.6:n.337C>A
ENST00000554085.5:c.*306C>A	ENSP00000450419.1:n.*306C>A
ENST00000554139.5:n.808C>A
ENST00000554550.5:c.*182C>A	ENSP00000451435.1:n.*182C>A
ENST00000554638.5:n.1034C>A
ENST00000554897.5:c.*249C>A	ENSP00000450942.1:n.*249C>A
ENST00000554944.5:n.911C>A
ENST00000555020.5:n.718C>A
ENST00000555086.5:n.566C>A
ENST00000555214.5:n.383C>A
ENST00000556244.1:c.549C>A
ENST00000556278.1:c.307C>A	ENSP00000451792.1:p.Gln103Lys
ENST00000556494.5:n.683C>A
ENST00000557706.5:n.1124C>A
NM_000155.3:c.562C>A	NP_000146.2:p.Gln188Lys
NM_001258332.1:c.235C>A	NP_001245261.1:p.Gln79Lys
NM_000155.4:c.562C>A MANE Select	NP_000146.2:p.Gln188Lys
NM_001258332.2:c.235C>A	NP_001245261.1:p.Gln79Lys