Canonical Allele Identifier: CA373283539

Gene: GALT

Linked Data

• ClinVar Variation Id: 2824112
• ClinVar RCV Id: RCV003610347
• MyVariant Identifiers: chr9:g.34648788G>T (hg19) ; chr9:g.34648791G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648791G>T , CM000671.2:g.34648791G>T	GRCh38
NC_000009.11:g.34648788G>T , CM000671.1:g.34648788G>T	GRCh37
NC_000009.10:g.34638788G>T	NCBI36
NG_009029.1:g.7154G>T
NG_028966.1:g.1607G>T
NG_009029.2:g.7203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*305G>T	ENSP00000509954.1:n.*305G>T
ENST00000378842.8:c.717G>T MANE Select	ENSP00000368119.4:p.Trp239Cys
ENST00000378842.7:c.717G>T	ENSP00000368119.3:p.Trp239Cys
ENST00000450095.6:c.390G>T	ENSP00000401956.2:p.Trp130Cys
ENST00000473506.6:c.*305G>T	ENSP00000432839.2:n.*305G>T
ENST00000473529.5:n.876G>T
ENST00000487381.5:n.1407G>T
ENST00000489643.6:n.797G>T
ENST00000554085.5:c.*461G>T	ENSP00000450419.1:n.*461G>T
ENST00000554550.5:c.*337G>T	ENSP00000451435.1:n.*337G>T
ENST00000554638.5:n.1189G>T
ENST00000555020.5:n.1178G>T
ENST00000555086.5:n.721G>T
ENST00000555754.1:n.62G>T
ENST00000556244.1:c.704G>T
ENST00000556278.1:c.432+335G>T	ENSP00000451792.1:n.432+335G>T
ENST00000557706.5:n.1279G>T
NM_000155.3:c.717G>T	NP_000146.2:p.Trp239Cys
NM_001258332.1:c.390G>T	NP_001245261.1:p.Trp130Cys
NM_000155.4:c.717G>T MANE Select	NP_000146.2:p.Trp239Cys
NM_001258332.2:c.390G>T	NP_001245261.1:p.Trp130Cys