Canonical Allele Identifier: CA5036027

Gene: GALT

Linked Data

• dbSNP Id: rs762421661
• ExAC: 9:34647115 C / T
• gnomAD v2: 9-34647115-C-T
• MyVariant Identifiers: chr9:g.34647115C>T (hg19) ; chr9:g.34647118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647118C>T , CM000671.2:g.34647118C>T	GRCh38
NC_000009.11:g.34647115C>T , CM000671.1:g.34647115C>T	GRCh37
NC_000009.10:g.34637115C>T	NCBI36
NG_009029.1:g.5481C>T
NG_009029.2:g.5530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.112C>T	ENSP00000509954.1:p.Gln38Ter
ENST00000378842.8:c.112C>T MANE Select	ENSP00000368119.4:p.Gln38Ter
ENST00000378842.7:c.112C>T	ENSP00000368119.3:p.Gln38Ter
ENST00000450095.6:c.-91C>T	ENSP00000401956.2:n.-91C>T
ENST00000465543.6:n.451C>T
ENST00000468099.2:n.155-3C>T
ENST00000472111.5:n.153C>T
ENST00000473506.6:c.112C>T	ENSP00000432839.2:p.Gln38Ter
ENST00000473529.5:n.159C>T
ENST00000485531.1:n.105C>T
ENST00000487381.5:n.138C>T
ENST00000489643.6:n.142C>T
ENST00000554085.5:c.112C>T	ENSP00000450419.1:p.Gln38Ter
ENST00000554139.5:n.165C>T
ENST00000554330.5:n.109C>T
ENST00000554550.5:c.112C>T	ENSP00000451435.1:p.Gln38Ter
ENST00000554638.5:n.136C>T
ENST00000554897.5:c.112C>T	ENSP00000450942.1:p.Gln38Ter
ENST00000554944.5:n.142C>T
ENST00000555020.5:n.142C>T
ENST00000555086.5:n.116C>T
ENST00000555214.5:n.121C>T
ENST00000556157.1:n.219C>T
ENST00000556278.1:c.112C>T	ENSP00000451792.1:p.Gln38Ter
ENST00000556403.5:n.125C>T
ENST00000556494.5:n.144C>T
ENST00000557541.5:n.305C>T
ENST00000557706.5:n.226C>T
ENST00000605275.1:n.650C>T
NM_000155.3:c.112C>T	NP_000146.2:p.Gln38Ter
NM_001258332.1:c.-91C>T	NP_001245261.1:n.-91C>T
NM_000155.4:c.112C>T MANE Select	NP_000146.2:p.Gln38Ter
NM_001258332.2:c.-91C>T	NP_001245261.1:n.-91C>T