Canonical Allele Identifier: CA373281587

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648148A>C (hg19) ; chr9:g.34648151A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648151A>C , CM000671.2:g.34648151A>C	GRCh38
NC_000009.11:g.34648148A>C , CM000671.1:g.34648148A>C	GRCh37
NC_000009.10:g.34638148A>C	NCBI36
NG_009029.1:g.6514A>C
NG_028966.1:g.967A>C
NG_009029.2:g.6563A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*132A>C	ENSP00000509954.1:n.*132A>C
ENST00000378842.8:c.544A>C MANE Select	ENSP00000368119.4:p.Asn182His
ENST00000378842.7:c.544A>C	ENSP00000368119.3:p.Asn182His
ENST00000450095.6:c.217A>C	ENSP00000401956.2:p.Asn73His
ENST00000465543.6:n.883A>C
ENST00000472111.5:n.800A>C
ENST00000473506.6:c.*132A>C	ENSP00000432839.2:n.*132A>C
ENST00000473529.5:n.703A>C
ENST00000485531.1:n.1138A>C
ENST00000487381.5:n.929A>C
ENST00000489643.6:n.319A>C
ENST00000554085.5:c.*288A>C	ENSP00000450419.1:n.*288A>C
ENST00000554139.5:n.790A>C
ENST00000554550.5:c.*164A>C	ENSP00000451435.1:n.*164A>C
ENST00000554638.5:n.1016A>C
ENST00000554897.5:c.*231A>C	ENSP00000450942.1:n.*231A>C
ENST00000554944.5:n.893A>C
ENST00000555020.5:n.700A>C
ENST00000555086.5:n.548A>C
ENST00000555214.5:n.365A>C
ENST00000556244.1:c.531A>C
ENST00000556278.1:c.289A>C	ENSP00000451792.1:p.Asn97His
ENST00000556494.5:n.665A>C
ENST00000557706.5:n.1106A>C
NM_000155.3:c.544A>C	NP_000146.2:p.Asn182His
NM_001258332.1:c.217A>C	NP_001245261.1:p.Asn73His
NM_000155.4:c.544A>C MANE Select	NP_000146.2:p.Asn182His
NM_001258332.2:c.217A>C	NP_001245261.1:p.Asn73His