Canonical Allele Identifier: CA2695201556

Gene: GALT

Linked Data

• ClinVar Variation Id: 2675824
• ClinVar RCV Id: RCV003461644

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649417_34649418insGA , CM000671.2:g.34649417_34649418insGA	GRCh38
NC_000009.11:g.34649414_34649415insGA , CM000671.1:g.34649414_34649415insGA	GRCh37
NC_000009.10:g.34639414_34639415insGA	NCBI36
NG_009029.1:g.7780_7781insGA
NG_028966.1:g.2233_2234insGA
NG_009029.2:g.7829_7830insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*500_*501insGA	ENSP00000509954.1:n.*500_*501insGA
ENST00000378842.8:c.912_913insGA MANE Select	ENSP00000368119.4:p.Thr305GlufsTer?
ENST00000378842.7:c.912_913insGA	ENSP00000368119.3:p.Thr305GlufsTer?
ENST00000450095.6:c.585_586insGA	ENSP00000401956.2:p.Thr196GlufsTer?
ENST00000488412.2:n.496_497insGA
ENST00000489643.6:n.1320_1321insGA
ENST00000554550.5:c.*532_*533insGA	ENSP00000451435.1:n.*532_*533insGA
ENST00000554638.5:n.1384_1385insGA
ENST00000555020.5:n.1701_1702insGA
ENST00000555754.1:n.360_361insGA
ENST00000556278.1:c.432+961_432+962insGA	ENSP00000451792.1:n.432+961_432+962insGA
ENST00000557706.5:n.1487_1488insGA
NM_000155.3:c.912_913insGA	NP_000146.2:p.Thr305GlufsTer?
NM_001258332.1:c.585_586insGA	NP_001245261.1:p.Thr196GlufsTer?
NM_000155.4:c.912_913insGA MANE Select	NP_000146.2:p.Thr305GlufsTer?
NM_001258332.2:c.585_586insGA	NP_001245261.1:p.Thr196GlufsTer?