Canonical Allele Identifier: CA373281460

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648133A>C (hg19) ; chr9:g.34648136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648136A>C , CM000671.2:g.34648136A>C	GRCh38
NC_000009.11:g.34648133A>C , CM000671.1:g.34648133A>C	GRCh37
NC_000009.10:g.34638133A>C	NCBI36
NG_009029.1:g.6499A>C
NG_028966.1:g.952A>C
NG_009029.2:g.6548A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*117A>C	ENSP00000509954.1:n.*117A>C
ENST00000378842.8:c.529A>C MANE Select	ENSP00000368119.4:p.Met177Leu
ENST00000378842.7:c.529A>C	ENSP00000368119.3:p.Met177Leu
ENST00000450095.6:c.202A>C	ENSP00000401956.2:p.Met68Leu
ENST00000465543.6:n.868A>C
ENST00000472111.5:n.785A>C
ENST00000473506.6:c.*117A>C	ENSP00000432839.2:n.*117A>C
ENST00000473529.5:n.688A>C
ENST00000485531.1:n.1123A>C
ENST00000487381.5:n.914A>C
ENST00000489643.6:n.304A>C
ENST00000554085.5:c.*273A>C	ENSP00000450419.1:n.*273A>C
ENST00000554139.5:n.775A>C
ENST00000554550.5:c.*149A>C	ENSP00000451435.1:n.*149A>C
ENST00000554638.5:n.1001A>C
ENST00000554897.5:c.*216A>C	ENSP00000450942.1:n.*216A>C
ENST00000554944.5:n.878A>C
ENST00000555020.5:n.685A>C
ENST00000555086.5:n.533A>C
ENST00000555214.5:n.350A>C
ENST00000556244.1:c.516A>C
ENST00000556278.1:c.274A>C	ENSP00000451792.1:p.Met92Leu
ENST00000556494.5:n.650A>C
ENST00000557706.5:n.1091A>C
NM_000155.3:c.529A>C	NP_000146.2:p.Met177Leu
NM_001258332.1:c.202A>C	NP_001245261.1:p.Met68Leu
NM_000155.4:c.529A>C MANE Select	NP_000146.2:p.Met177Leu
NM_001258332.2:c.202A>C	NP_001245261.1:p.Met68Leu