Canonical Allele Identifier: CA2689810072
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649084-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649084G>A , CM000671.2:g.34649084G>A GRCh38
NC_000009.11:g.34649081G>A , CM000671.1:g.34649081G>A GRCh37
NC_000009.10:g.34639081G>A NCBI36
NG_009029.1:g.7447G>A
NG_028966.1:g.1900G>A
NG_009029.2:g.7496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*492+3G>A ENSP00000509954.1:n.*492+3G>A
ENST00000378842.8:c.904+3G>A MANE Select ENSP00000368119.4:n.904+3G>A
ENST00000378842.7:c.904+3G>A ENSP00000368119.3:n.904+3G>A
ENST00000450095.6:c.577+3G>A ENSP00000401956.2:n.577+3G>A
ENST00000488412.2:n.163G>A
ENST00000489643.6:n.987G>A
ENST00000554550.5:c.*524+3G>A ENSP00000451435.1:n.*524+3G>A
ENST00000554638.5:n.1376+3G>A
ENST00000555020.5:n.1368G>A
ENST00000555086.5:n.1014G>A
ENST00000555754.1:n.352+3G>A
ENST00000556278.1:c.432+628G>A ENSP00000451792.1:n.432+628G>A
ENST00000557706.5:n.1479+3G>A
NM_000155.3:c.904+3G>A NP_000146.2:n.904+3G>A
NM_001258332.1:c.577+3G>A NP_001245261.1:n.577+3G>A
NM_000155.4:c.904+3G>A MANE Select NP_000146.2:n.904+3G>A
NM_001258332.2:c.577+3G>A NP_001245261.1:n.577+3G>A