Canonical Allele Identifier: CA373282153

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648403C>A (hg19) ; chr9:g.34648406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648406C>A , CM000671.2:g.34648406C>A	GRCh38
NC_000009.11:g.34648403C>A , CM000671.1:g.34648403C>A	GRCh37
NC_000009.10:g.34638403C>A	NCBI36
NG_009029.1:g.6769C>A
NG_028966.1:g.1222C>A
NG_009029.2:g.6818C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*225C>A	ENSP00000509954.1:n.*225C>A
ENST00000378842.8:c.637C>A MANE Select	ENSP00000368119.4:p.His213Asn
ENST00000378842.7:c.637C>A	ENSP00000368119.3:p.His213Asn
ENST00000450095.6:c.310C>A	ENSP00000401956.2:p.His104Asn
ENST00000472111.5:n.893C>A
ENST00000473506.6:c.*225C>A	ENSP00000432839.2:n.*225C>A
ENST00000473529.5:n.796C>A
ENST00000487381.5:n.1022C>A
ENST00000489643.6:n.412C>A
ENST00000554085.5:c.*381C>A	ENSP00000450419.1:n.*381C>A
ENST00000554550.5:c.*257C>A	ENSP00000451435.1:n.*257C>A
ENST00000554638.5:n.1109C>A
ENST00000555020.5:n.793C>A
ENST00000555086.5:n.641C>A
ENST00000555214.5:n.458C>A
ENST00000556244.1:c.624C>A
ENST00000556278.1:c.382C>A	ENSP00000451792.1:p.His128Asn
ENST00000556494.5:n.758C>A
ENST00000557706.5:n.1199C>A
NM_000155.3:c.637C>A	NP_000146.2:p.His213Asn
NM_001258332.1:c.310C>A	NP_001245261.1:p.His104Asn
NM_000155.4:c.637C>A MANE Select	NP_000146.2:p.His213Asn
NM_001258332.2:c.310C>A	NP_001245261.1:p.His104Asn