Canonical Allele Identifier: CA275379

Gene: GALT

Linked Data

• ClinVar Variation Id: 198394
• ClinVar RCV Id: RCV000179721 ; RCV000723393
• dbSNP Id: rs794727838
• MyVariant Identifiers: chr9:g.34648338C>T (hg19) ; chr9:g.34648341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648341C>T , CM000671.2:g.34648341C>T	GRCh38
NC_000009.11:g.34648338C>T , CM000671.1:g.34648338C>T	GRCh37
NC_000009.10:g.34638338C>T	NCBI36
NG_009029.1:g.6704C>T
NG_028966.1:g.1157C>T
NG_009029.2:g.6753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*160C>T	ENSP00000509954.1:n.*160C>T
ENST00000378842.8:c.572C>T MANE Select	ENSP00000368119.4:p.Ala191Val
ENST00000378842.7:c.572C>T	ENSP00000368119.3:p.Ala191Val
ENST00000450095.6:c.245C>T	ENSP00000401956.2:p.Ala82Val
ENST00000472111.5:n.828C>T
ENST00000473506.6:c.*160C>T	ENSP00000432839.2:n.*160C>T
ENST00000473529.5:n.731C>T
ENST00000485531.1:n.1166C>T
ENST00000487381.5:n.957C>T
ENST00000489643.6:n.347C>T
ENST00000554085.5:c.*316C>T	ENSP00000450419.1:n.*316C>T
ENST00000554139.5:n.818C>T
ENST00000554550.5:c.*192C>T	ENSP00000451435.1:n.*192C>T
ENST00000554638.5:n.1044C>T
ENST00000554897.5:c.*259C>T	ENSP00000450942.1:n.*259C>T
ENST00000554944.5:n.921C>T
ENST00000555020.5:n.728C>T
ENST00000555086.5:n.576C>T
ENST00000555214.5:n.393C>T
ENST00000556244.1:c.559C>T
ENST00000556278.1:c.317C>T	ENSP00000451792.1:p.Ala106Val
ENST00000556494.5:n.693C>T
ENST00000557706.5:n.1134C>T
NM_000155.3:c.572C>T	NP_000146.2:p.Ala191Val
NM_001258332.1:c.245C>T	NP_001245261.1:p.Ala82Val
NM_000155.4:c.572C>T MANE Select	NP_000146.2:p.Ala191Val
NM_001258332.2:c.245C>T	NP_001245261.1:p.Ala82Val