Canonical Allele Identifier: CA464403310
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648881-T-C
MyVariant Identifiers: chr9:g.34648878T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648881T>C , CM000671.2:g.34648881T>C GRCh38
NC_000009.11:g.34648878T>C , CM000671.1:g.34648878T>C GRCh37
NC_000009.10:g.34638878T>C NCBI36
NG_009029.1:g.7244T>C
NG_028966.1:g.1697T>C
NG_009029.2:g.7293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*395T>C ENSP00000509954.1:n.*395T>C
ENST00000378842.8:c.807T>C MANE Select ENSP00000368119.4:p.Pro269=
ENST00000378842.7:c.807T>C ENSP00000368119.3:p.Pro269=
ENST00000450095.6:c.480T>C ENSP00000401956.2:p.Pro160=
ENST00000473506.6:c.*395T>C ENSP00000432839.2:n.*395T>C
ENST00000489643.6:n.887T>C
ENST00000554085.5:c.*551T>C ENSP00000450419.1:n.*551T>C
ENST00000554550.5:c.*427T>C ENSP00000451435.1:n.*427T>C
ENST00000554638.5:n.1279T>C
ENST00000555020.5:n.1268T>C
ENST00000555086.5:n.811T>C
ENST00000555754.1:n.152T>C
ENST00000556244.1:c.794T>C
ENST00000556278.1:c.432+425T>C ENSP00000451792.1:n.432+425T>C
ENST00000557706.5:n.1369T>C
NM_000155.3:c.807T>C NP_000146.2:p.Pro269=
NM_001258332.1:c.480T>C NP_001245261.1:p.Pro160=
NM_000155.4:c.807T>C MANE Select NP_000146.2:p.Pro269=
NM_001258332.2:c.480T>C NP_001245261.1:p.Pro160=