Canonical Allele Identifier: CA373283415

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648778G>A (hg19) ; chr9:g.34648781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648781G>A , CM000671.2:g.34648781G>A	GRCh38
NC_000009.11:g.34648778G>A , CM000671.1:g.34648778G>A	GRCh37
NC_000009.10:g.34638778G>A	NCBI36
NG_009029.1:g.7144G>A
NG_028966.1:g.1597G>A
NG_009029.2:g.7193G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*295G>A	ENSP00000509954.1:n.*295G>A
ENST00000378842.8:c.707G>A MANE Select	ENSP00000368119.4:p.Ser236Asn
ENST00000378842.7:c.707G>A	ENSP00000368119.3:p.Ser236Asn
ENST00000450095.6:c.380G>A	ENSP00000401956.2:p.Ser127Asn
ENST00000473506.6:c.*295G>A	ENSP00000432839.2:n.*295G>A
ENST00000473529.5:n.866G>A
ENST00000487381.5:n.1397G>A
ENST00000489643.6:n.787G>A
ENST00000554085.5:c.*451G>A	ENSP00000450419.1:n.*451G>A
ENST00000554550.5:c.*327G>A	ENSP00000451435.1:n.*327G>A
ENST00000554638.5:n.1179G>A
ENST00000555020.5:n.1168G>A
ENST00000555086.5:n.711G>A
ENST00000555754.1:n.52G>A
ENST00000556244.1:c.694G>A
ENST00000556278.1:c.432+325G>A	ENSP00000451792.1:n.432+325G>A
ENST00000557706.5:n.1269G>A
NM_000155.3:c.707G>A	NP_000146.2:p.Ser236Asn
NM_001258332.1:c.380G>A	NP_001245261.1:p.Ser127Asn
NM_000155.4:c.707G>A MANE Select	NP_000146.2:p.Ser236Asn
NM_001258332.2:c.380G>A	NP_001245261.1:p.Ser127Asn