Canonical Allele Identifier: CA373284825

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649448T>C (hg19) ; chr9:g.34649451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649451T>C , CM000671.2:g.34649451T>C	GRCh38
NC_000009.11:g.34649448T>C , CM000671.1:g.34649448T>C	GRCh37
NC_000009.10:g.34639448T>C	NCBI36
NG_009029.1:g.7814T>C
NG_028966.1:g.2267T>C
NG_009029.2:g.7863T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*534T>C	ENSP00000509954.1:n.*534T>C
ENST00000378842.8:c.946T>C MANE Select	ENSP00000368119.4:p.Trp316Arg
ENST00000378842.7:c.946T>C	ENSP00000368119.3:p.Trp316Arg
ENST00000450095.6:c.619T>C	ENSP00000401956.2:p.Trp207Arg
ENST00000488412.2:n.530T>C
ENST00000489643.6:n.1354T>C
ENST00000554550.5:c.*566T>C	ENSP00000451435.1:n.*566T>C
ENST00000554638.5:n.1418T>C
ENST00000555020.5:n.1735T>C
ENST00000555754.1:n.394T>C
ENST00000556278.1:c.432+995T>C	ENSP00000451792.1:n.432+995T>C
ENST00000557706.5:n.1521T>C
NM_000155.3:c.946T>C	NP_000146.2:p.Trp316Arg
NM_001258332.1:c.619T>C	NP_001245261.1:p.Trp207Arg
NM_000155.4:c.946T>C MANE Select	NP_000146.2:p.Trp316Arg
NM_001258332.2:c.619T>C	NP_001245261.1:p.Trp207Arg