Canonical Allele Identifier: CA1845640199
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821181634
gnomAD v4: 9-34648970-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648970C>T , CM000671.2:g.34648970C>T GRCh38
NC_000009.11:g.34648967C>T , CM000671.1:g.34648967C>T GRCh37
NC_000009.10:g.34638967C>T NCBI36
NG_009029.1:g.7333C>T
NG_028966.1:g.1786C>T
NG_009029.2:g.7382C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-28C>T ENSP00000509954.1:n.*409-28C>T
ENST00000378842.8:c.821-28C>T MANE Select ENSP00000368119.4:n.821-28C>T
ENST00000378842.7:c.821-28C>T ENSP00000368119.3:n.821-28C>T
ENST00000450095.6:c.494-28C>T ENSP00000401956.2:n.494-28C>T
ENST00000488412.2:n.49C>T
ENST00000489643.6:n.901-28C>T
ENST00000554085.5:c.*565-28C>T ENSP00000450419.1:n.*565-28C>T
ENST00000554550.5:c.*441-28C>T ENSP00000451435.1:n.*441-28C>T
ENST00000554638.5:n.1293-28C>T
ENST00000555020.5:n.1282-28C>T
ENST00000555086.5:n.900C>T
ENST00000555754.1:n.241C>T
ENST00000556278.1:c.432+514C>T ENSP00000451792.1:n.432+514C>T
ENST00000557706.5:n.1396-28C>T
NM_000155.3:c.821-28C>T NP_000146.2:n.821-28C>T
NM_001258332.1:c.494-28C>T NP_001245261.1:n.494-28C>T
NM_000155.4:c.821-28C>T MANE Select NP_000146.2:n.821-28C>T
NM_001258332.2:c.494-28C>T NP_001245261.1:n.494-28C>T