Canonical Allele Identifier: CA464403244
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648863-G-C
MyVariant Identifiers: chr9:g.34648860G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648863G>C , CM000671.2:g.34648863G>C GRCh38
NC_000009.11:g.34648860G>C , CM000671.1:g.34648860G>C GRCh37
NC_000009.10:g.34638860G>C NCBI36
NG_009029.1:g.7226G>C
NG_028966.1:g.1679G>C
NG_009029.2:g.7275G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*377G>C ENSP00000509954.1:n.*377G>C
ENST00000378842.8:c.789G>C MANE Select ENSP00000368119.4:p.Arg263=
ENST00000378842.7:c.789G>C ENSP00000368119.3:p.Arg263=
ENST00000450095.6:c.462G>C ENSP00000401956.2:p.Arg154=
ENST00000473506.6:c.*377G>C ENSP00000432839.2:n.*377G>C
ENST00000489643.6:n.869G>C
ENST00000554085.5:c.*533G>C ENSP00000450419.1:n.*533G>C
ENST00000554550.5:c.*409G>C ENSP00000451435.1:n.*409G>C
ENST00000554638.5:n.1261G>C
ENST00000555020.5:n.1250G>C
ENST00000555086.5:n.793G>C
ENST00000555754.1:n.134G>C
ENST00000556244.1:c.776G>C
ENST00000556278.1:c.432+407G>C ENSP00000451792.1:n.432+407G>C
ENST00000557706.5:n.1351G>C
NM_000155.3:c.789G>C NP_000146.2:p.Arg263=
NM_001258332.1:c.462G>C NP_001245261.1:p.Arg154=
NM_000155.4:c.789G>C MANE Select NP_000146.2:p.Arg263=
NM_001258332.2:c.462G>C NP_001245261.1:p.Arg154=