Canonical Allele Identifier: CA373283967

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648868A>T (hg19) ; chr9:g.34648871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648871A>T , CM000671.2:g.34648871A>T	GRCh38
NC_000009.11:g.34648868A>T , CM000671.1:g.34648868A>T	GRCh37
NC_000009.10:g.34638868A>T	NCBI36
NG_009029.1:g.7234A>T
NG_028966.1:g.1687A>T
NG_009029.2:g.7283A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*385A>T	ENSP00000509954.1:n.*385A>T
ENST00000378842.8:c.797A>T MANE Select	ENSP00000368119.4:p.Glu266Val
ENST00000378842.7:c.797A>T	ENSP00000368119.3:p.Glu266Val
ENST00000450095.6:c.470A>T	ENSP00000401956.2:p.Glu157Val
ENST00000473506.6:c.*385A>T	ENSP00000432839.2:n.*385A>T
ENST00000489643.6:n.877A>T
ENST00000554085.5:c.*541A>T	ENSP00000450419.1:n.*541A>T
ENST00000554550.5:c.*417A>T	ENSP00000451435.1:n.*417A>T
ENST00000554638.5:n.1269A>T
ENST00000555020.5:n.1258A>T
ENST00000555086.5:n.801A>T
ENST00000555754.1:n.142A>T
ENST00000556244.1:c.784A>T
ENST00000556278.1:c.432+415A>T	ENSP00000451792.1:n.432+415A>T
ENST00000557706.5:n.1359A>T
NM_000155.3:c.797A>T	NP_000146.2:p.Glu266Val
NM_001258332.1:c.470A>T	NP_001245261.1:p.Glu157Val
NM_000155.4:c.797A>T MANE Select	NP_000146.2:p.Glu266Val
NM_001258332.2:c.470A>T	NP_001245261.1:p.Glu157Val