Canonical Allele Identifier: CA373283784

Gene: GALT

Linked Data

• ClinVar Variation Id: 2432031
• ClinVar RCV Id: RCV003135319
• MyVariant Identifiers: chr9:g.34648819C>T (hg19) ; chr9:g.34648822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648822C>T , CM000671.2:g.34648822C>T	GRCh38
NC_000009.11:g.34648819C>T , CM000671.1:g.34648819C>T	GRCh37
NC_000009.10:g.34638819C>T	NCBI36
NG_009029.1:g.7185C>T
NG_028966.1:g.1638C>T
NG_009029.2:g.7234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*336C>T	ENSP00000509954.1:n.*336C>T
ENST00000378842.8:c.748C>T MANE Select	ENSP00000368119.4:p.Pro250Ser
ENST00000378842.7:c.748C>T	ENSP00000368119.3:p.Pro250Ser
ENST00000450095.6:c.421C>T	ENSP00000401956.2:p.Pro141Ser
ENST00000473506.6:c.*336C>T	ENSP00000432839.2:n.*336C>T
ENST00000473529.5:n.907C>T
ENST00000487381.5:n.1438C>T
ENST00000489643.6:n.828C>T
ENST00000554085.5:c.*492C>T	ENSP00000450419.1:n.*492C>T
ENST00000554550.5:c.*368C>T	ENSP00000451435.1:n.*368C>T
ENST00000554638.5:n.1220C>T
ENST00000555020.5:n.1209C>T
ENST00000555086.5:n.752C>T
ENST00000555754.1:n.93C>T
ENST00000556244.1:c.735C>T
ENST00000556278.1:c.432+366C>T	ENSP00000451792.1:n.432+366C>T
ENST00000557706.5:n.1310C>T
NM_000155.3:c.748C>T	NP_000146.2:p.Pro250Ser
NM_001258332.1:c.421C>T	NP_001245261.1:p.Pro141Ser
NM_000155.4:c.748C>T MANE Select	NP_000146.2:p.Pro250Ser
NM_001258332.2:c.421C>T	NP_001245261.1:p.Pro141Ser