Canonical Allele Identifier: CA464404073

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649408G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649411G>C , CM000671.2:g.34649411G>C	GRCh38
NC_000009.11:g.34649408G>C , CM000671.1:g.34649408G>C	GRCh37
NC_000009.10:g.34639408G>C	NCBI36
NG_009029.1:g.7774G>C
NG_028966.1:g.2227G>C
NG_009029.2:g.7823G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*494G>C	ENSP00000509954.1:n.*494G>C
ENST00000378842.8:c.906G>C MANE Select	ENSP00000368119.4:p.Gly302=
ENST00000378842.7:c.906G>C	ENSP00000368119.3:p.Gly302=
ENST00000450095.6:c.579G>C	ENSP00000401956.2:p.Gly193=
ENST00000488412.2:n.490G>C
ENST00000489643.6:n.1314G>C
ENST00000554550.5:c.*526G>C	ENSP00000451435.1:n.*526G>C
ENST00000554638.5:n.1378G>C
ENST00000555020.5:n.1695G>C
ENST00000555754.1:n.354G>C
ENST00000556278.1:c.432+955G>C	ENSP00000451792.1:n.432+955G>C
ENST00000557706.5:n.1481G>C
NM_000155.3:c.906G>C	NP_000146.2:p.Gly302=
NM_001258332.1:c.579G>C	NP_001245261.1:p.Gly193=
NM_000155.4:c.906G>C MANE Select	NP_000146.2:p.Gly302=
NM_001258332.2:c.579G>C	NP_001245261.1:p.Gly193=