Canonical Allele Identifier: CA1845640954
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821194507
gnomAD v4: 9-34649348-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649348G>T , CM000671.2:g.34649348G>T GRCh38
NC_000009.11:g.34649345G>T , CM000671.1:g.34649345G>T GRCh37
NC_000009.10:g.34639345G>T NCBI36
NG_009029.1:g.7711G>T
NG_028966.1:g.2164G>T
NG_009029.2:g.7760G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-62G>T ENSP00000509954.1:n.*493-62G>T
ENST00000378842.8:c.905-62G>T MANE Select ENSP00000368119.4:n.905-62G>T
ENST00000378842.7:c.905-62G>T ENSP00000368119.3:n.905-62G>T
ENST00000450095.6:c.578-62G>T ENSP00000401956.2:n.578-62G>T
ENST00000488412.2:n.427G>T
ENST00000489643.6:n.1251G>T
ENST00000554550.5:c.*525-62G>T ENSP00000451435.1:n.*525-62G>T
ENST00000554638.5:n.1377-62G>T
ENST00000555020.5:n.1632G>T
ENST00000555754.1:n.353-62G>T
ENST00000556278.1:c.432+892G>T ENSP00000451792.1:n.432+892G>T
ENST00000557706.5:n.1480-62G>T
NM_000155.3:c.905-62G>T NP_000146.2:n.905-62G>T
NM_001258332.1:c.578-62G>T NP_001245261.1:n.578-62G>T
NM_000155.4:c.905-62G>T MANE Select NP_000146.2:n.905-62G>T
NM_001258332.2:c.578-62G>T NP_001245261.1:n.578-62G>T