Canonical Allele Identifier: CA10603791

Gene: GALT

Linked Data

• ClinVar Variation Id: 281044
• ClinVar RCV Id: RCV000386913
• dbSNP Id: rs373048062
• MyVariant Identifiers: chr9:g.34648449G>C (hg19) ; chr9:g.34648452G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*271G>C	ENSP00000509954.1:n.*271G>C
ENST00000378842.8:c.683G>C MANE Select	ENSP00000368119.4:p.Arg228Thr
ENST00000378842.7:c.683G>C	ENSP00000368119.3:p.Arg228Thr
ENST00000450095.6:c.356G>C	ENSP00000401956.2:p.Arg119Thr
ENST00000472111.5:n.939G>C
ENST00000473506.6:c.*271G>C	ENSP00000432839.2:n.*271G>C
ENST00000473529.5:n.842G>C
ENST00000487381.5:n.1068G>C
ENST00000489643.6:n.458G>C
ENST00000554085.5:c.*427G>C	ENSP00000450419.1:n.*427G>C
ENST00000554550.5:c.*303G>C	ENSP00000451435.1:n.*303G>C
ENST00000554638.5:n.1155G>C
ENST00000555020.5:n.839G>C
ENST00000555086.5:n.687G>C
ENST00000555214.5:n.504G>C
ENST00000555754.1:n.28G>C
ENST00000556244.1:c.670G>C
ENST00000556278.1:c.428G>C	ENSP00000451792.1:p.Arg143Thr
ENST00000556494.5:n.804G>C
ENST00000557706.5:n.1245G>C
NM_000155.3:c.683G>C	NP_000146.2:p.Arg228Thr
NM_001258332.1:c.356G>C	NP_001245261.1:p.Arg119Thr
NM_000155.4:c.683G>C MANE Select	NP_000146.2:p.Arg228Thr
NM_001258332.2:c.356G>C	NP_001245261.1:p.Arg119Thr