Canonical Allele Identifier: CA373283472

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648785C>A (hg19) ; chr9:g.34648788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648788C>A , CM000671.2:g.34648788C>A	GRCh38
NC_000009.11:g.34648785C>A , CM000671.1:g.34648785C>A	GRCh37
NC_000009.10:g.34638785C>A	NCBI36
NG_009029.1:g.7151C>A
NG_028966.1:g.1604C>A
NG_009029.2:g.7200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*302C>A	ENSP00000509954.1:n.*302C>A
ENST00000378842.8:c.714C>A MANE Select	ENSP00000368119.4:p.His238Gln
ENST00000378842.7:c.714C>A	ENSP00000368119.3:p.His238Gln
ENST00000450095.6:c.387C>A	ENSP00000401956.2:p.His129Gln
ENST00000473506.6:c.*302C>A	ENSP00000432839.2:n.*302C>A
ENST00000473529.5:n.873C>A
ENST00000487381.5:n.1404C>A
ENST00000489643.6:n.794C>A
ENST00000554085.5:c.*458C>A	ENSP00000450419.1:n.*458C>A
ENST00000554550.5:c.*334C>A	ENSP00000451435.1:n.*334C>A
ENST00000554638.5:n.1186C>A
ENST00000555020.5:n.1175C>A
ENST00000555086.5:n.718C>A
ENST00000555754.1:n.59C>A
ENST00000556244.1:c.701C>A
ENST00000556278.1:c.432+332C>A	ENSP00000451792.1:n.432+332C>A
ENST00000557706.5:n.1276C>A
NM_000155.3:c.714C>A	NP_000146.2:p.His238Gln
NM_001258332.1:c.387C>A	NP_001245261.1:p.His129Gln
NM_000155.4:c.714C>A MANE Select	NP_000146.2:p.His238Gln
NM_001258332.2:c.387C>A	NP_001245261.1:p.His129Gln