Canonical Allele Identifier: CA373283318

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648765C>G , CM000671.2:g.34648765C>G	GRCh38
NC_000009.11:g.34648762C>G , CM000671.1:g.34648762C>G	GRCh37
NC_000009.10:g.34638762C>G	NCBI36
NG_009029.1:g.7128C>G
NG_028966.1:g.1581C>G
NG_009029.2:g.7177C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.691C>G MANE Select	NP_000146.2:p.Arg231Gly
ENST00000378842.8:c.691C>G MANE Select	ENSP00000368119.4:p.Arg231Gly
NM_000155.3:c.691C>G	NP_000146.2:p.Arg231Gly
NM_001258332.1:c.364C>G	NP_001245261.1:p.Arg122Gly
NM_001258332.2:c.364C>G	NP_001245261.1:p.Arg122Gly
ENST00000378842.7:c.691C>G	ENSP00000368119.3:p.Arg231Gly
ENST00000450095.6:c.364C>G	ENSP00000401956.2:p.Arg122Gly
ENST00000473506.6:c.*279C>G	ENSP00000432839.2:n.*279C>G
ENST00000473529.5:n.850C>G
ENST00000487381.5:n.1381C>G
ENST00000489643.6:n.771C>G
ENST00000554085.5:c.*435C>G	ENSP00000450419.1:n.*435C>G
ENST00000554550.5:c.*311C>G	ENSP00000451435.1:n.*311C>G
ENST00000554638.5:n.1163C>G
ENST00000555020.5:n.1152C>G
ENST00000555086.5:n.695C>G
ENST00000555754.1:n.36C>G
ENST00000556244.1:c.678C>G
ENST00000556278.1:c.432+309C>G	ENSP00000451792.1:n.432+309C>G
ENST00000557706.5:n.1253C>G
ENST00000691183.1:c.*279C>G	ENSP00000509954.1:n.*279C>G