Canonical Allele Identifier: CA373283920

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648852G>C (hg19) ; chr9:g.34648855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648855G>C , CM000671.2:g.34648855G>C	GRCh38
NC_000009.11:g.34648852G>C , CM000671.1:g.34648852G>C	GRCh37
NC_000009.10:g.34638852G>C	NCBI36
NG_009029.1:g.7218G>C
NG_028966.1:g.1671G>C
NG_009029.2:g.7267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*369G>C	ENSP00000509954.1:n.*369G>C
ENST00000378842.8:c.781G>C MANE Select	ENSP00000368119.4:p.Val261Leu
ENST00000378842.7:c.781G>C	ENSP00000368119.3:p.Val261Leu
ENST00000450095.6:c.454G>C	ENSP00000401956.2:p.Val152Leu
ENST00000473506.6:c.*369G>C	ENSP00000432839.2:n.*369G>C
ENST00000489643.6:n.861G>C
ENST00000554085.5:c.*525G>C	ENSP00000450419.1:n.*525G>C
ENST00000554550.5:c.*401G>C	ENSP00000451435.1:n.*401G>C
ENST00000554638.5:n.1253G>C
ENST00000555020.5:n.1242G>C
ENST00000555086.5:n.785G>C
ENST00000555754.1:n.126G>C
ENST00000556244.1:c.768G>C
ENST00000556278.1:c.432+399G>C	ENSP00000451792.1:n.432+399G>C
ENST00000557706.5:n.1343G>C
NM_000155.3:c.781G>C	NP_000146.2:p.Val261Leu
NM_001258332.1:c.454G>C	NP_001245261.1:p.Val152Leu
NM_000155.4:c.781G>C MANE Select	NP_000146.2:p.Val261Leu
NM_001258332.2:c.454G>C	NP_001245261.1:p.Val152Leu