Canonical Allele Identifier: CA373283875

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648838T>C (hg19) ; chr9:g.34648841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648841T>C , CM000671.2:g.34648841T>C	GRCh38
NC_000009.11:g.34648838T>C , CM000671.1:g.34648838T>C	GRCh37
NC_000009.10:g.34638838T>C	NCBI36
NG_009029.1:g.7204T>C
NG_028966.1:g.1657T>C
NG_009029.2:g.7253T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*355T>C	ENSP00000509954.1:n.*355T>C
ENST00000378842.8:c.767T>C MANE Select	ENSP00000368119.4:p.Leu256Pro
ENST00000378842.7:c.767T>C	ENSP00000368119.3:p.Leu256Pro
ENST00000450095.6:c.440T>C	ENSP00000401956.2:p.Leu147Pro
ENST00000473506.6:c.*355T>C	ENSP00000432839.2:n.*355T>C
ENST00000489643.6:n.847T>C
ENST00000554085.5:c.*511T>C	ENSP00000450419.1:n.*511T>C
ENST00000554550.5:c.*387T>C	ENSP00000451435.1:n.*387T>C
ENST00000554638.5:n.1239T>C
ENST00000555020.5:n.1228T>C
ENST00000555086.5:n.771T>C
ENST00000555754.1:n.112T>C
ENST00000556244.1:c.754T>C
ENST00000556278.1:c.432+385T>C	ENSP00000451792.1:n.432+385T>C
ENST00000557706.5:n.1329T>C
NM_000155.3:c.767T>C	NP_000146.2:p.Leu256Pro
NM_001258332.1:c.440T>C	NP_001245261.1:p.Leu147Pro
NM_000155.4:c.767T>C MANE Select	NP_000146.2:p.Leu256Pro
NM_001258332.2:c.440T>C	NP_001245261.1:p.Leu147Pro