Canonical Allele Identifier: CA464595775
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34647186T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647189T>C , CM000671.2:g.34647189T>C GRCh38
NC_000009.11:g.34647186T>C , CM000671.1:g.34647186T>C GRCh37
NC_000009.10:g.34637186T>C NCBI36
NG_009029.1:g.5552T>C
NG_028966.1:g.5T>C
NG_009029.2:g.5601T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.183T>C ENSP00000509954.1:p.Leu61=
ENST00000378842.8:c.183T>C MANE Select ENSP00000368119.4:p.Leu61=
ENST00000378842.7:c.183T>C ENSP00000368119.3:p.Leu61=
ENST00000450095.6:c.-20T>C ENSP00000401956.2:n.-20T>C
ENST00000465543.6:n.522T>C
ENST00000468099.2:n.223T>C
ENST00000472111.5:n.224T>C
ENST00000473506.6:c.183T>C ENSP00000432839.2:p.Leu61=
ENST00000473529.5:n.230T>C
ENST00000485531.1:n.176T>C
ENST00000487381.5:n.209T>C
ENST00000489643.6:n.213T>C
ENST00000554085.5:c.183T>C ENSP00000450419.1:p.Leu61=
ENST00000554139.5:n.236T>C
ENST00000554330.5:n.180T>C
ENST00000554550.5:c.183T>C ENSP00000451435.1:p.Leu61=
ENST00000554638.5:n.207T>C
ENST00000554897.5:c.183T>C ENSP00000450942.1:p.Leu61=
ENST00000554944.5:n.213T>C
ENST00000555020.5:n.213T>C
ENST00000555086.5:n.187T>C
ENST00000555214.5:n.192T>C
ENST00000556157.1:n.290T>C
ENST00000556244.1:c.67T>C
ENST00000556278.1:c.183T>C ENSP00000451792.1:p.Leu61=
ENST00000556403.5:n.196T>C
ENST00000556494.5:n.215T>C
ENST00000557541.5:n.376T>C
ENST00000557706.5:n.297T>C
NM_000155.3:c.183T>C NP_000146.2:p.Leu61=
NM_001258332.1:c.-20T>C NP_001245261.1:n.-20T>C
NM_000155.4:c.183T>C MANE Select NP_000146.2:p.Leu61=
NM_001258332.2:c.-20T>C NP_001245261.1:n.-20T>C