Canonical Allele Identifier: CA261028

Gene: GALT

Linked Data

• dbSNP Id: rs367543269
• MyVariant Identifiers: chr9:g.34647849_34647850dupCC (hg19) ; chr9:g.34647852_34647853dupCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647852_34647853dup , CM000671.2:g.34647852_34647853dup	GRCh38
NC_000009.11:g.34647849_34647850dup , CM000671.1:g.34647849_34647850dup	GRCh37
NC_000009.10:g.34637849_34637850dup	NCBI36
NG_009029.1:g.6215_6216dup
NG_028966.1:g.668_669dup
NG_009029.2:g.6264_6265dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.349_350dup	ENSP00000509954.1:p.Gly118LeufsTer13
ENST00000378842.8:c.398_399dup MANE Select	ENSP00000368119.4:p.Trp134ProfsTer5
ENST00000378842.7:c.398_399dup	ENSP00000368119.3:p.Trp134ProfsTer5
ENST00000450095.6:c.71_72dup	ENSP00000401956.2:p.Trp25ProfsTer5
ENST00000465543.6:n.737_738dup
ENST00000472111.5:n.654_655dup
ENST00000473506.6:c.349_350dup	ENSP00000432839.2:p.Gly118LeufsTer13
ENST00000473529.5:n.534_535dup
ENST00000485531.1:n.839_840dup
ENST00000487381.5:n.783_784dup
ENST00000489643.6:n.283-263_283-262dup
ENST00000554085.5:c.*142_*143dup	ENSP00000450419.1:n.*142_*143dup
ENST00000554139.5:n.577_578dup
ENST00000554550.5:c.*18_*19dup	ENSP00000451435.1:n.*18_*19dup
ENST00000554638.5:n.870_871dup
ENST00000554897.5:c.*18_*19dup	ENSP00000450942.1:n.*18_*19dup
ENST00000554944.5:n.594_595dup
ENST00000555020.5:n.554_555dup
ENST00000555086.5:n.402_403dup
ENST00000555214.5:n.262-196_262-195dup
ENST00000556244.1:c.385_386dup
ENST00000556278.1:c.253-263_253-262dup	ENSP00000451792.1:n.253-263_253-262dup
ENST00000556494.5:n.519_520dup
ENST00000557541.5:n.542_543dup
ENST00000557706.5:n.960_961dup
NM_000155.3:c.398_399dup	NP_000146.2:p.Trp134ProfsTer5
NM_001258332.1:c.71_72dup	NP_001245261.1:p.Trp25ProfsTer5
NM_000155.4:c.398_399dup MANE Select	NP_000146.2:p.Trp134ProfsTer5
NM_001258332.2:c.71_72dup	NP_001245261.1:p.Trp25ProfsTer5