Canonical Allele Identifier: CA259562

Gene: GALT

Linked Data

• dbSNP Id: rs111033808
• MyVariant Identifiers: chr9:g.34649500G>T (hg19) ; chr9:g.34649503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649503G>T , CM000671.2:g.34649503G>T	GRCh38
NC_000009.11:g.34649500G>T , CM000671.1:g.34649500G>T	GRCh37
NC_000009.10:g.34639500G>T	NCBI36
NG_009029.1:g.7866G>T
NG_028966.1:g.2319G>T
NG_009029.2:g.7915G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*586G>T	ENSP00000509954.1:n.*586G>T
ENST00000378842.8:c.998G>T MANE Select	ENSP00000368119.4:p.Arg333Leu
ENST00000378842.7:c.998G>T	ENSP00000368119.3:p.Arg333Leu
ENST00000450095.6:c.671G>T	ENSP00000401956.2:p.Arg224Leu
ENST00000488412.2:n.582G>T
ENST00000489643.6:n.1406G>T
ENST00000554550.5:c.*618G>T	ENSP00000451435.1:n.*618G>T
ENST00000554638.5:n.1470G>T
ENST00000555020.5:n.1787G>T
ENST00000555754.1:n.446G>T
ENST00000556278.1:c.432+1047G>T	ENSP00000451792.1:n.432+1047G>T
ENST00000557706.5:n.1573G>T
NM_000155.3:c.998G>T	NP_000146.2:p.Arg333Leu
NM_001258332.1:c.671G>T	NP_001245261.1:p.Arg224Leu
NM_000155.4:c.998G>T MANE Select	NP_000146.2:p.Arg333Leu
NM_001258332.2:c.671G>T	NP_001245261.1:p.Arg224Leu