Canonical Allele Identifier: CA373284429

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649051T>C (hg19) ; chr9:g.34649054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649054T>C , CM000671.2:g.34649054T>C	GRCh38
NC_000009.11:g.34649051T>C , CM000671.1:g.34649051T>C	GRCh37
NC_000009.10:g.34639051T>C	NCBI36
NG_009029.1:g.7417T>C
NG_028966.1:g.1870T>C
NG_009029.2:g.7466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*465T>C	ENSP00000509954.1:n.*465T>C
ENST00000378842.8:c.877T>C MANE Select	ENSP00000368119.4:p.Ser293Pro
ENST00000378842.7:c.877T>C	ENSP00000368119.3:p.Ser293Pro
ENST00000450095.6:c.550T>C	ENSP00000401956.2:p.Ser184Pro
ENST00000488412.2:n.133T>C
ENST00000489643.6:n.957T>C
ENST00000554550.5:c.*497T>C	ENSP00000451435.1:n.*497T>C
ENST00000554638.5:n.1349T>C
ENST00000555020.5:n.1338T>C
ENST00000555086.5:n.984T>C
ENST00000555754.1:n.325T>C
ENST00000556278.1:c.432+598T>C	ENSP00000451792.1:n.432+598T>C
ENST00000557706.5:n.1452T>C
NM_000155.3:c.877T>C	NP_000146.2:p.Ser293Pro
NM_001258332.1:c.550T>C	NP_001245261.1:p.Ser184Pro
NM_000155.4:c.877T>C MANE Select	NP_000146.2:p.Ser293Pro
NM_001258332.2:c.550T>C	NP_001245261.1:p.Ser184Pro