Canonical Allele Identifier: CA373283850

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648831C>G (hg19) ; chr9:g.34648834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648834C>G , CM000671.2:g.34648834C>G	GRCh38
NC_000009.11:g.34648831C>G , CM000671.1:g.34648831C>G	GRCh37
NC_000009.10:g.34638831C>G	NCBI36
NG_009029.1:g.7197C>G
NG_028966.1:g.1650C>G
NG_009029.2:g.7246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*348C>G	ENSP00000509954.1:n.*348C>G
ENST00000378842.8:c.760C>G MANE Select	ENSP00000368119.4:p.Leu254Val
ENST00000378842.7:c.760C>G	ENSP00000368119.3:p.Leu254Val
ENST00000450095.6:c.433C>G	ENSP00000401956.2:p.Leu145Val
ENST00000473506.6:c.*348C>G	ENSP00000432839.2:n.*348C>G
ENST00000489643.6:n.840C>G
ENST00000554085.5:c.*504C>G	ENSP00000450419.1:n.*504C>G
ENST00000554550.5:c.*380C>G	ENSP00000451435.1:n.*380C>G
ENST00000554638.5:n.1232C>G
ENST00000555020.5:n.1221C>G
ENST00000555086.5:n.764C>G
ENST00000555754.1:n.105C>G
ENST00000556244.1:c.747C>G
ENST00000556278.1:c.432+378C>G	ENSP00000451792.1:n.432+378C>G
ENST00000557706.5:n.1322C>G
NM_000155.3:c.760C>G	NP_000146.2:p.Leu254Val
NM_001258332.1:c.433C>G	NP_001245261.1:p.Leu145Val
NM_000155.4:c.760C>G MANE Select	NP_000146.2:p.Leu254Val
NM_001258332.2:c.433C>G	NP_001245261.1:p.Leu145Val