Canonical Allele Identifier: CA5036119

Gene: GALT

Linked Data

• dbSNP Id: rs755400936
• ExAC: 9:34647850 C / T
• gnomAD v2: 9-34647850-C-T
• gnomAD v4: 9-34647853-C-T
• MyVariant Identifiers: chr9:g.34647850C>T (hg19) ; chr9:g.34647850_34647851delinsTT (hg19) ; chr9:g.34647853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647853C>T , CM000671.2:g.34647853C>T	GRCh38
NC_000009.11:g.34647850C>T , CM000671.1:g.34647850C>T	GRCh37
NC_000009.10:g.34637850C>T	NCBI36
NG_009029.1:g.6216C>T
NG_028966.1:g.669C>T
NG_009029.2:g.6265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.350C>T	ENSP00000509954.1:p.Pro117Leu
ENST00000378842.8:c.399C>T MANE Select	ENSP00000368119.4:p.Pro133=
ENST00000378842.7:c.399C>T	ENSP00000368119.3:p.Pro133=
ENST00000450095.6:c.72C>T	ENSP00000401956.2:p.Pro24=
ENST00000465543.6:n.738C>T
ENST00000472111.5:n.655C>T
ENST00000473506.6:c.350C>T	ENSP00000432839.2:p.Pro117Leu
ENST00000473529.5:n.535C>T
ENST00000485531.1:n.840C>T
ENST00000487381.5:n.784C>T
ENST00000489643.6:n.283-262C>T
ENST00000554085.5:c.*143C>T	ENSP00000450419.1:n.*143C>T
ENST00000554139.5:n.578C>T
ENST00000554550.5:c.*19C>T	ENSP00000451435.1:n.*19C>T
ENST00000554638.5:n.871C>T
ENST00000554897.5:c.*19C>T	ENSP00000450942.1:n.*19C>T
ENST00000554944.5:n.595C>T
ENST00000555020.5:n.555C>T
ENST00000555086.5:n.403C>T
ENST00000555214.5:n.262-195C>T
ENST00000556244.1:c.386C>T
ENST00000556278.1:c.253-262C>T	ENSP00000451792.1:n.253-262C>T
ENST00000556494.5:n.520C>T
ENST00000557541.5:n.543C>T
ENST00000557706.5:n.961C>T
NM_000155.3:c.399C>T	NP_000146.2:p.Pro133=
NM_001258332.1:c.72C>T	NP_001245261.1:p.Pro24=
NM_000155.4:c.399C>T MANE Select	NP_000146.2:p.Pro133=
NM_001258332.2:c.72C>T	NP_001245261.1:p.Pro24=