Canonical Allele Identifier: CA464404093

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649414C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649417C>T , CM000671.2:g.34649417C>T	GRCh38
NC_000009.11:g.34649414C>T , CM000671.1:g.34649414C>T	GRCh37
NC_000009.10:g.34639414C>T	NCBI36
NG_009029.1:g.7780C>T
NG_028966.1:g.2233C>T
NG_009029.2:g.7829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*500C>T	ENSP00000509954.1:n.*500C>T
ENST00000378842.8:c.912C>T MANE Select	ENSP00000368119.4:p.Pro304=
ENST00000378842.7:c.912C>T	ENSP00000368119.3:p.Pro304=
ENST00000450095.6:c.585C>T	ENSP00000401956.2:p.Pro195=
ENST00000488412.2:n.496C>T
ENST00000489643.6:n.1320C>T
ENST00000554550.5:c.*532C>T	ENSP00000451435.1:n.*532C>T
ENST00000554638.5:n.1384C>T
ENST00000555020.5:n.1701C>T
ENST00000555754.1:n.360C>T
ENST00000556278.1:c.432+961C>T	ENSP00000451792.1:n.432+961C>T
ENST00000557706.5:n.1487C>T
NM_000155.3:c.912C>T	NP_000146.2:p.Pro304=
NM_001258332.1:c.585C>T	NP_001245261.1:p.Pro195=
NM_000155.4:c.912C>T MANE Select	NP_000146.2:p.Pro304=
NM_001258332.2:c.585C>T	NP_001245261.1:p.Pro195=