Canonical Allele Identifier: CA373278755

Gene: GALT

Linked Data

• gnomAD v4: 9-34647219-C-G
• MyVariant Identifiers: chr9:g.34647216C>G (hg19) ; chr9:g.34647219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647219C>G , CM000671.2:g.34647219C>G	GRCh38
NC_000009.11:g.34647216C>G , CM000671.1:g.34647216C>G	GRCh37
NC_000009.10:g.34637216C>G	NCBI36
NG_009029.1:g.5582C>G
NG_028966.1:g.35C>G
NG_009029.2:g.5631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.213C>G	ENSP00000509954.1:p.Leu71=
ENST00000378842.8:c.213C>G MANE Select	ENSP00000368119.4:p.Leu71=
ENST00000378842.7:c.213C>G	ENSP00000368119.3:p.Leu71=
ENST00000450095.6:c.11C>G	ENSP00000401956.2:p.Ser4Ter
ENST00000465543.6:n.552C>G
ENST00000468099.2:n.253C>G
ENST00000472111.5:n.254C>G
ENST00000473506.6:c.213C>G	ENSP00000432839.2:p.Leu71=
ENST00000473529.5:n.260C>G
ENST00000485531.1:n.206C>G
ENST00000487381.5:n.239C>G
ENST00000489643.6:n.243C>G
ENST00000554085.5:c.213C>G	ENSP00000450419.1:p.Leu71=
ENST00000554139.5:n.266C>G
ENST00000554330.5:n.210C>G
ENST00000554550.5:c.213C>G	ENSP00000451435.1:p.Leu71=
ENST00000554638.5:n.237C>G
ENST00000554897.5:c.213C>G	ENSP00000450942.1:p.Leu71=
ENST00000554944.5:n.243C>G
ENST00000555020.5:n.243C>G
ENST00000555086.5:n.217C>G
ENST00000555214.5:n.222C>G
ENST00000556157.1:n.320C>G
ENST00000556244.1:c.97C>G
ENST00000556278.1:c.213C>G	ENSP00000451792.1:p.Leu71=
ENST00000556403.5:n.226C>G
ENST00000556494.5:n.245C>G
ENST00000557541.5:n.406C>G
ENST00000557706.5:n.327C>G
NM_000155.3:c.213C>G	NP_000146.2:p.Leu71=
NM_001258332.1:c.11C>G	NP_001245261.1:p.Ser4Ter
NM_000155.4:c.213C>G MANE Select	NP_000146.2:p.Leu71=
NM_001258332.2:c.11C>G	NP_001245261.1:p.Ser4Ter