Canonical Allele Identifier: CA373280453

Gene: GALT

Linked Data

• dbSNP Id: rs1821141451
• gnomAD v3: 9-34647705-G-A
• gnomAD v4: 9-34647705-G-A
• MyVariant Identifiers: chr9:g.34647702G>A (hg19) ; chr9:g.34647705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647705G>A , CM000671.2:g.34647705G>A	GRCh38
NC_000009.11:g.34647702G>A , CM000671.1:g.34647702G>A	GRCh37
NC_000009.10:g.34637702G>A	NCBI36
NG_009029.1:g.6068G>A
NG_028966.1:g.521G>A
NG_009029.2:g.6117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.329-127G>A	ENSP00000509954.1:n.329-127G>A
ENST00000378842.8:c.377G>A MANE Select	ENSP00000368119.4:p.Cys126Tyr
ENST00000378842.7:c.377G>A	ENSP00000368119.3:p.Cys126Tyr
ENST00000450095.6:c.51-127G>A	ENSP00000401956.2:n.51-127G>A
ENST00000465543.6:n.716G>A
ENST00000472111.5:n.507G>A
ENST00000473506.6:c.328G>A	ENSP00000432839.2:p.Val110Ile
ENST00000473529.5:n.513G>A
ENST00000485531.1:n.692G>A
ENST00000487381.5:n.636G>A
ENST00000489643.6:n.283-410G>A
ENST00000554085.5:c.*121G>A	ENSP00000450419.1:n.*121G>A
ENST00000554139.5:n.430G>A
ENST00000554330.5:n.414G>A
ENST00000554550.5:c.253-127G>A	ENSP00000451435.1:n.253-127G>A
ENST00000554638.5:n.723G>A
ENST00000554897.5:c.253-127G>A	ENSP00000450942.1:n.253-127G>A
ENST00000554944.5:n.447G>A
ENST00000555020.5:n.407G>A
ENST00000555086.5:n.381G>A
ENST00000555214.5:n.262-343G>A
ENST00000556157.1:n.501G>A
ENST00000556244.1:c.364G>A
ENST00000556278.1:c.253-410G>A	ENSP00000451792.1:n.253-410G>A
ENST00000556403.5:n.479G>A
ENST00000556494.5:n.498G>A
ENST00000557541.5:n.521G>A
ENST00000557706.5:n.813G>A
NM_000155.3:c.377G>A	NP_000146.2:p.Cys126Tyr
NM_001258332.1:c.51-127G>A	NP_001245261.1:n.51-127G>A
NM_000155.4:c.377G>A MANE Select	NP_000146.2:p.Cys126Tyr
NM_001258332.2:c.51-127G>A	NP_001245261.1:n.51-127G>A