Canonical Allele Identifier: CA373283417

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648778G>C (hg19) ; chr9:g.34648781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648781G>C , CM000671.2:g.34648781G>C	GRCh38
NC_000009.11:g.34648778G>C , CM000671.1:g.34648778G>C	GRCh37
NC_000009.10:g.34638778G>C	NCBI36
NG_009029.1:g.7144G>C
NG_028966.1:g.1597G>C
NG_009029.2:g.7193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*295G>C	ENSP00000509954.1:n.*295G>C
ENST00000378842.8:c.707G>C MANE Select	ENSP00000368119.4:p.Ser236Thr
ENST00000378842.7:c.707G>C	ENSP00000368119.3:p.Ser236Thr
ENST00000450095.6:c.380G>C	ENSP00000401956.2:p.Ser127Thr
ENST00000473506.6:c.*295G>C	ENSP00000432839.2:n.*295G>C
ENST00000473529.5:n.866G>C
ENST00000487381.5:n.1397G>C
ENST00000489643.6:n.787G>C
ENST00000554085.5:c.*451G>C	ENSP00000450419.1:n.*451G>C
ENST00000554550.5:c.*327G>C	ENSP00000451435.1:n.*327G>C
ENST00000554638.5:n.1179G>C
ENST00000555020.5:n.1168G>C
ENST00000555086.5:n.711G>C
ENST00000555754.1:n.52G>C
ENST00000556244.1:c.694G>C
ENST00000556278.1:c.432+325G>C	ENSP00000451792.1:n.432+325G>C
ENST00000557706.5:n.1269G>C
NM_000155.3:c.707G>C	NP_000146.2:p.Ser236Thr
NM_001258332.1:c.380G>C	NP_001245261.1:p.Ser127Thr
NM_000155.4:c.707G>C MANE Select	NP_000146.2:p.Ser236Thr
NM_001258332.2:c.380G>C	NP_001245261.1:p.Ser127Thr