Canonical Allele Identifier: CA192670863

Gene: GALT

Linked Data

• ClinVar Variation Id: 1549436
• ClinVar RCV Id: RCV002182679
• dbSNP Id: rs913223040
• MyVariant Identifiers: chr9:g.34649444C>T (hg19) ; chr9:g.34649447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649447C>T , CM000671.2:g.34649447C>T	GRCh38
NC_000009.11:g.34649444C>T , CM000671.1:g.34649444C>T	GRCh37
NC_000009.10:g.34639444C>T	NCBI36
NG_009029.1:g.7810C>T
NG_028966.1:g.2263C>T
NG_009029.2:g.7859C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*530C>T	ENSP00000509954.1:n.*530C>T
ENST00000378842.8:c.942C>T MANE Select	ENSP00000368119.4:p.Asn314=
ENST00000378842.7:c.942C>T	ENSP00000368119.3:p.Asn314=
ENST00000450095.6:c.615C>T	ENSP00000401956.2:p.Asn205=
ENST00000488412.2:n.526C>T
ENST00000489643.6:n.1350C>T
ENST00000554550.5:c.*562C>T	ENSP00000451435.1:n.*562C>T
ENST00000554638.5:n.1414C>T
ENST00000555020.5:n.1731C>T
ENST00000555754.1:n.390C>T
ENST00000556278.1:c.432+991C>T	ENSP00000451792.1:n.432+991C>T
ENST00000557706.5:n.1517C>T
NM_000155.3:c.942C>T	NP_000146.2:p.Asn314=
NM_001258332.1:c.615C>T	NP_001245261.1:p.Asn205=
NM_000155.4:c.942C>T MANE Select	NP_000146.2:p.Asn314=
NM_001258332.2:c.615C>T	NP_001245261.1:p.Asn205=