Canonical Allele Identifier: CA1845640949
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1587240493

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649340G>A , CM000671.2:g.34649340G>A GRCh38
NC_000009.11:g.34649337G>A , CM000671.1:g.34649337G>A GRCh37
NC_000009.10:g.34639337G>A NCBI36
NG_009029.1:g.7703G>A
NG_028966.1:g.2156G>A
NG_009029.2:g.7752G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*493-70G>A ENSP00000509954.1:n.*493-70G>A
ENST00000378842.8:c.905-70G>A MANE Select ENSP00000368119.4:n.905-70G>A
ENST00000378842.7:c.905-70G>A ENSP00000368119.3:n.905-70G>A
ENST00000450095.6:c.578-70G>A ENSP00000401956.2:n.578-70G>A
ENST00000488412.2:n.419G>A
ENST00000489643.6:n.1243G>A
ENST00000554550.5:c.*525-70G>A ENSP00000451435.1:n.*525-70G>A
ENST00000554638.5:n.1377-70G>A
ENST00000555020.5:n.1624G>A
ENST00000555754.1:n.353-70G>A
ENST00000556278.1:c.432+884G>A ENSP00000451792.1:n.432+884G>A
ENST00000557706.5:n.1480-70G>A
NM_000155.3:c.905-70G>A NP_000146.2:n.905-70G>A
NM_001258332.1:c.578-70G>A NP_001245261.1:n.578-70G>A
NM_000155.4:c.905-70G>A MANE Select NP_000146.2:n.905-70G>A
NM_001258332.2:c.578-70G>A NP_001245261.1:n.578-70G>A