Canonical Allele Identifier: CA373284619
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649408A>C , CM000671.2:g.34649408A>C GRCh38
NC_000009.11:g.34649405A>C , CM000671.1:g.34649405A>C GRCh37
NC_000009.10:g.34639405A>C NCBI36
NG_009029.1:g.7771A>C
NG_028966.1:g.2224A>C
NG_009029.2:g.7820A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-2A>C ENSP00000509954.1:n.*493-2A>C
ENST00000378842.8:c.905-2A>C MANE Select ENSP00000368119.4:n.905-2A>C
ENST00000378842.7:c.905-2A>C ENSP00000368119.3:n.905-2A>C
ENST00000450095.6:c.578-2A>C ENSP00000401956.2:n.578-2A>C
ENST00000488412.2:n.487A>C
ENST00000489643.6:n.1311A>C
ENST00000554550.5:c.*525-2A>C ENSP00000451435.1:n.*525-2A>C
ENST00000554638.5:n.1377-2A>C
ENST00000555020.5:n.1692A>C
ENST00000555754.1:n.353-2A>C
ENST00000556278.1:c.432+952A>C ENSP00000451792.1:n.432+952A>C
ENST00000557706.5:n.1480-2A>C
NM_000155.3:c.905-2A>C NP_000146.2:n.905-2A>C
NM_001258332.1:c.578-2A>C NP_001245261.1:n.578-2A>C
NM_000155.4:c.905-2A>C MANE Select NP_000146.2:n.905-2A>C
NM_001258332.2:c.578-2A>C NP_001245261.1:n.578-2A>C