Canonical Allele Identifier: CA373284203

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649009A>T (hg19) ; chr9:g.34649012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649012A>T , CM000671.2:g.34649012A>T	GRCh38
NC_000009.11:g.34649009A>T , CM000671.1:g.34649009A>T	GRCh37
NC_000009.10:g.34639009A>T	NCBI36
NG_009029.1:g.7375A>T
NG_028966.1:g.1828A>T
NG_009029.2:g.7424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*423A>T	ENSP00000509954.1:n.*423A>T
ENST00000378842.8:c.835A>T MANE Select	ENSP00000368119.4:p.Met279Leu
ENST00000378842.7:c.835A>T	ENSP00000368119.3:p.Met279Leu
ENST00000450095.6:c.508A>T	ENSP00000401956.2:p.Met170Leu
ENST00000488412.2:n.91A>T
ENST00000489643.6:n.915A>T
ENST00000554085.5:c.*579A>T	ENSP00000450419.1:n.*579A>T
ENST00000554550.5:c.*455A>T	ENSP00000451435.1:n.*455A>T
ENST00000554638.5:n.1307A>T
ENST00000555020.5:n.1296A>T
ENST00000555086.5:n.942A>T
ENST00000555754.1:n.283A>T
ENST00000556278.1:c.432+556A>T	ENSP00000451792.1:n.432+556A>T
ENST00000557706.5:n.1410A>T
NM_000155.3:c.835A>T	NP_000146.2:p.Met279Leu
NM_001258332.1:c.508A>T	NP_001245261.1:p.Met170Leu
NM_000155.4:c.835A>T MANE Select	NP_000146.2:p.Met279Leu
NM_001258332.2:c.508A>T	NP_001245261.1:p.Met170Leu