Canonical Allele Identifier: CA373282408

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648449G>T (hg19) ; chr9:g.34648452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648452G>T , CM000671.2:g.34648452G>T	GRCh38
NC_000009.11:g.34648449G>T , CM000671.1:g.34648449G>T	GRCh37
NC_000009.10:g.34638449G>T	NCBI36
NG_009029.1:g.6815G>T
NG_028966.1:g.1268G>T
NG_009029.2:g.6864G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*271G>T	ENSP00000509954.1:n.*271G>T
ENST00000378842.8:c.683G>T MANE Select	ENSP00000368119.4:p.Arg228Met
ENST00000378842.7:c.683G>T	ENSP00000368119.3:p.Arg228Met
ENST00000450095.6:c.356G>T	ENSP00000401956.2:p.Arg119Met
ENST00000472111.5:n.939G>T
ENST00000473506.6:c.*271G>T	ENSP00000432839.2:n.*271G>T
ENST00000473529.5:n.842G>T
ENST00000487381.5:n.1068G>T
ENST00000489643.6:n.458G>T
ENST00000554085.5:c.*427G>T	ENSP00000450419.1:n.*427G>T
ENST00000554550.5:c.*303G>T	ENSP00000451435.1:n.*303G>T
ENST00000554638.5:n.1155G>T
ENST00000555020.5:n.839G>T
ENST00000555086.5:n.687G>T
ENST00000555214.5:n.504G>T
ENST00000555754.1:n.28G>T
ENST00000556244.1:c.670G>T
ENST00000556278.1:c.428G>T	ENSP00000451792.1:p.Arg143Met
ENST00000556494.5:n.804G>T
ENST00000557706.5:n.1245G>T
NM_000155.3:c.683G>T	NP_000146.2:p.Arg228Met
NM_001258332.1:c.356G>T	NP_001245261.1:p.Arg119Met
NM_000155.4:c.683G>T MANE Select	NP_000146.2:p.Arg228Met
NM_001258332.2:c.356G>T	NP_001245261.1:p.Arg119Met