Canonical Allele Identifier: CA5036268

Gene: GALT

Linked Data

• ClinVar Variation Id: 2242199
• ClinVar RCV Id: RCV002767375
• dbSNP Id: rs373852153
• ExAC: 9:34649490 G / T
• gnomAD v2: 9-34649490-G-T
• gnomAD v3: 9-34649493-G-T
• gnomAD v4: 9-34649493-G-T
• MyVariant Identifiers: chr9:g.34649490G>T (hg19) ; chr9:g.34649493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649493G>T , CM000671.2:g.34649493G>T	GRCh38
NC_000009.11:g.34649490G>T , CM000671.1:g.34649490G>T	GRCh37
NC_000009.10:g.34639490G>T	NCBI36
NG_009029.1:g.7856G>T
NG_028966.1:g.2309G>T
NG_009029.2:g.7905G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*576G>T	ENSP00000509954.1:n.*576G>T
ENST00000378842.8:c.988G>T MANE Select	ENSP00000368119.4:p.Ala330Ser
ENST00000378842.7:c.988G>T	ENSP00000368119.3:p.Ala330Ser
ENST00000450095.6:c.661G>T	ENSP00000401956.2:p.Ala221Ser
ENST00000488412.2:n.572G>T
ENST00000489643.6:n.1396G>T
ENST00000554550.5:c.*608G>T	ENSP00000451435.1:n.*608G>T
ENST00000554638.5:n.1460G>T
ENST00000555020.5:n.1777G>T
ENST00000555754.1:n.436G>T
ENST00000556278.1:c.432+1037G>T	ENSP00000451792.1:n.432+1037G>T
ENST00000557706.5:n.1563G>T
NM_000155.3:c.988G>T	NP_000146.2:p.Ala330Ser
NM_001258332.1:c.661G>T	NP_001245261.1:p.Ala221Ser
NM_000155.4:c.988G>T MANE Select	NP_000146.2:p.Ala330Ser
NM_001258332.2:c.661G>T	NP_001245261.1:p.Ala221Ser