Canonical Allele Identifier: CA373285060

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649497T>C (hg19) ; chr9:g.34649500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649500T>C , CM000671.2:g.34649500T>C	GRCh38
NC_000009.11:g.34649497T>C , CM000671.1:g.34649497T>C	GRCh37
NC_000009.10:g.34639497T>C	NCBI36
NG_009029.1:g.7863T>C
NG_028966.1:g.2316T>C
NG_009029.2:g.7912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*583T>C	ENSP00000509954.1:n.*583T>C
ENST00000378842.8:c.995T>C MANE Select	ENSP00000368119.4:p.Val332Ala
ENST00000378842.7:c.995T>C	ENSP00000368119.3:p.Val332Ala
ENST00000450095.6:c.668T>C	ENSP00000401956.2:p.Val223Ala
ENST00000488412.2:n.579T>C
ENST00000489643.6:n.1403T>C
ENST00000554550.5:c.*615T>C	ENSP00000451435.1:n.*615T>C
ENST00000554638.5:n.1467T>C
ENST00000555020.5:n.1784T>C
ENST00000555754.1:n.443T>C
ENST00000556278.1:c.432+1044T>C	ENSP00000451792.1:n.432+1044T>C
ENST00000557706.5:n.1570T>C
NM_000155.3:c.995T>C	NP_000146.2:p.Val332Ala
NM_001258332.1:c.668T>C	NP_001245261.1:p.Val223Ala
NM_000155.4:c.995T>C MANE Select	NP_000146.2:p.Val332Ala
NM_001258332.2:c.668T>C	NP_001245261.1:p.Val223Ala