Canonical Allele Identifier: CA373278767

Gene: GALT

Linked Data

• gnomAD v4: 9-34647223-C-G
• MyVariant Identifiers: chr9:g.34647220C>G (hg19) ; chr9:g.34647223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647223C>G , CM000671.2:g.34647223C>G	GRCh38
NC_000009.11:g.34647220C>G , CM000671.1:g.34647220C>G	GRCh37
NC_000009.10:g.34637220C>G	NCBI36
NG_009029.1:g.5586C>G
NG_028966.1:g.39C>G
NG_009029.2:g.5635C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.217C>G	ENSP00000509954.1:p.Pro73Ala
ENST00000378842.8:c.217C>G MANE Select	ENSP00000368119.4:p.Pro73Ala
ENST00000378842.7:c.217C>G	ENSP00000368119.3:p.Pro73Ala
ENST00000450095.6:c.15C>G	ENSP00000401956.2:p.Thr5=
ENST00000465543.6:n.556C>G
ENST00000468099.2:n.257C>G
ENST00000472111.5:n.258C>G
ENST00000473506.6:c.217C>G	ENSP00000432839.2:p.Pro73Ala
ENST00000473529.5:n.264C>G
ENST00000485531.1:n.210C>G
ENST00000487381.5:n.243C>G
ENST00000489643.6:n.247C>G
ENST00000554085.5:c.217C>G	ENSP00000450419.1:p.Pro73Ala
ENST00000554139.5:n.270C>G
ENST00000554330.5:n.214C>G
ENST00000554550.5:c.217C>G	ENSP00000451435.1:p.Pro73Ala
ENST00000554638.5:n.241C>G
ENST00000554897.5:c.217C>G	ENSP00000450942.1:p.Pro73Ala
ENST00000554944.5:n.247C>G
ENST00000555020.5:n.247C>G
ENST00000555086.5:n.221C>G
ENST00000555214.5:n.226C>G
ENST00000556157.1:n.324C>G
ENST00000556244.1:c.101C>G
ENST00000556278.1:c.217C>G	ENSP00000451792.1:p.Pro73Ala
ENST00000556403.5:n.230C>G
ENST00000556494.5:n.249C>G
ENST00000557541.5:n.410C>G
ENST00000557706.5:n.331C>G
NM_000155.3:c.217C>G	NP_000146.2:p.Pro73Ala
NM_001258332.1:c.15C>G	NP_001245261.1:p.Thr5=
NM_000155.4:c.217C>G MANE Select	NP_000146.2:p.Pro73Ala
NM_001258332.2:c.15C>G	NP_001245261.1:p.Thr5=