Canonical Allele Identifier: CA2499219850

Gene: GALT

Linked Data

• ClinVar Variation Id: 1148001
• ClinVar RCV Id: RCV001487722
• dbSNP Id: rs2132343006

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647828C>T , CM000671.2:g.34647828C>T	GRCh38
NC_000009.11:g.34647825C>T , CM000671.1:g.34647825C>T	GRCh37
NC_000009.10:g.34637825C>T	NCBI36
NG_009029.1:g.6191C>T
NG_028966.1:g.644C>T
NG_009029.2:g.6240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-4C>T	ENSP00000509954.1:n.329-4C>T
ENST00000378842.8:c.378-4C>T MANE Select	ENSP00000368119.4:n.378-4C>T
ENST00000378842.7:c.378-4C>T	ENSP00000368119.3:n.378-4C>T
ENST00000450095.6:c.51-4C>T	ENSP00000401956.2:n.51-4C>T
ENST00000465543.6:n.717-4C>T
ENST00000472111.5:n.630C>T
ENST00000473506.6:c.329-4C>T	ENSP00000432839.2:n.329-4C>T
ENST00000473529.5:n.514-4C>T
ENST00000485531.1:n.815C>T
ENST00000487381.5:n.759C>T
ENST00000489643.6:n.283-287C>T
ENST00000554085.5:c.*122-4C>T	ENSP00000450419.1:n.*122-4C>T
ENST00000554139.5:n.553C>T
ENST00000554330.5:n.537C>T
ENST00000554550.5:c.253-4C>T	ENSP00000451435.1:n.253-4C>T
ENST00000554638.5:n.846C>T
ENST00000554897.5:c.253-4C>T	ENSP00000450942.1:n.253-4C>T
ENST00000554944.5:n.570C>T
ENST00000555020.5:n.530C>T
ENST00000555086.5:n.382-4C>T
ENST00000555214.5:n.262-220C>T
ENST00000556244.1:c.365-4C>T
ENST00000556278.1:c.253-287C>T	ENSP00000451792.1:n.253-287C>T
ENST00000556494.5:n.499-4C>T
ENST00000557541.5:n.522-4C>T
ENST00000557706.5:n.936C>T
NM_000155.3:c.378-4C>T	NP_000146.2:n.378-4C>T
NM_001258332.1:c.51-4C>T	NP_001245261.1:n.51-4C>T
NM_000155.4:c.378-4C>T MANE Select	NP_000146.2:n.378-4C>T
NM_001258332.2:c.51-4C>T	NP_001245261.1:n.51-4C>T