Canonical Allele Identifier: CA373283621

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648801C>A (hg19) ; chr9:g.34648804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648804C>A , CM000671.2:g.34648804C>A	GRCh38
NC_000009.11:g.34648801C>A , CM000671.1:g.34648801C>A	GRCh37
NC_000009.10:g.34638801C>A	NCBI36
NG_009029.1:g.7167C>A
NG_028966.1:g.1620C>A
NG_009029.2:g.7216C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*318C>A	ENSP00000509954.1:n.*318C>A
ENST00000378842.8:c.730C>A MANE Select	ENSP00000368119.4:p.Pro244Thr
ENST00000378842.7:c.730C>A	ENSP00000368119.3:p.Pro244Thr
ENST00000450095.6:c.403C>A	ENSP00000401956.2:p.Pro135Thr
ENST00000473506.6:c.*318C>A	ENSP00000432839.2:n.*318C>A
ENST00000473529.5:n.889C>A
ENST00000487381.5:n.1420C>A
ENST00000489643.6:n.810C>A
ENST00000554085.5:c.*474C>A	ENSP00000450419.1:n.*474C>A
ENST00000554550.5:c.*350C>A	ENSP00000451435.1:n.*350C>A
ENST00000554638.5:n.1202C>A
ENST00000555020.5:n.1191C>A
ENST00000555086.5:n.734C>A
ENST00000555754.1:n.75C>A
ENST00000556244.1:c.717C>A
ENST00000556278.1:c.432+348C>A	ENSP00000451792.1:n.432+348C>A
ENST00000557706.5:n.1292C>A
NM_000155.3:c.730C>A	NP_000146.2:p.Pro244Thr
NM_001258332.1:c.403C>A	NP_001245261.1:p.Pro135Thr
NM_000155.4:c.730C>A MANE Select	NP_000146.2:p.Pro244Thr
NM_001258332.2:c.403C>A	NP_001245261.1:p.Pro135Thr