Canonical Allele Identifier: CA373280252

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647654G>C (hg19) ; chr9:g.34647657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647657G>C , CM000671.2:g.34647657G>C	GRCh38
NC_000009.11:g.34647654G>C , CM000671.1:g.34647654G>C	GRCh37
NC_000009.10:g.34637654G>C	NCBI36
NG_009029.1:g.6020G>C
NG_028966.1:g.473G>C
NG_009029.2:g.6069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+90G>C	ENSP00000509954.1:n.328+90G>C
ENST00000378842.8:c.329G>C MANE Select	ENSP00000368119.4:p.Gly110Ala
ENST00000378842.7:c.329G>C	ENSP00000368119.3:p.Gly110Ala
ENST00000450095.6:c.51-175G>C	ENSP00000401956.2:n.51-175G>C
ENST00000465543.6:n.668G>C
ENST00000472111.5:n.459G>C
ENST00000473506.6:c.280G>C	ENSP00000432839.2:p.Asp94His
ENST00000473529.5:n.465G>C
ENST00000485531.1:n.644G>C
ENST00000487381.5:n.588G>C
ENST00000489643.6:n.282+399G>C
ENST00000554085.5:c.*73G>C	ENSP00000450419.1:n.*73G>C
ENST00000554139.5:n.382G>C
ENST00000554330.5:n.366G>C
ENST00000554550.5:c.253-175G>C	ENSP00000451435.1:n.253-175G>C
ENST00000554638.5:n.675G>C
ENST00000554897.5:c.253-175G>C	ENSP00000450942.1:n.253-175G>C
ENST00000554944.5:n.399G>C
ENST00000555020.5:n.359G>C
ENST00000555086.5:n.333G>C
ENST00000555214.5:n.262-391G>C
ENST00000556157.1:n.453G>C
ENST00000556244.1:c.316G>C
ENST00000556278.1:c.252+399G>C	ENSP00000451792.1:n.252+399G>C
ENST00000556403.5:n.431G>C
ENST00000556494.5:n.450G>C
ENST00000557541.5:n.473G>C
ENST00000557706.5:n.765G>C
NM_000155.3:c.329G>C	NP_000146.2:p.Gly110Ala
NM_001258332.1:c.51-175G>C	NP_001245261.1:n.51-175G>C
NM_000155.4:c.329G>C MANE Select	NP_000146.2:p.Gly110Ala
NM_001258332.2:c.51-175G>C	NP_001245261.1:n.51-175G>C