Canonical Allele Identifier: CA373283647

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648805T>C (hg19) ; chr9:g.34648808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648808T>C , CM000671.2:g.34648808T>C	GRCh38
NC_000009.11:g.34648805T>C , CM000671.1:g.34648805T>C	GRCh37
NC_000009.10:g.34638805T>C	NCBI36
NG_009029.1:g.7171T>C
NG_028966.1:g.1624T>C
NG_009029.2:g.7220T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*322T>C	ENSP00000509954.1:n.*322T>C
ENST00000378842.8:c.734T>C MANE Select	ENSP00000368119.4:p.Phe245Ser
ENST00000378842.7:c.734T>C	ENSP00000368119.3:p.Phe245Ser
ENST00000450095.6:c.407T>C	ENSP00000401956.2:p.Phe136Ser
ENST00000473506.6:c.*322T>C	ENSP00000432839.2:n.*322T>C
ENST00000473529.5:n.893T>C
ENST00000487381.5:n.1424T>C
ENST00000489643.6:n.814T>C
ENST00000554085.5:c.*478T>C	ENSP00000450419.1:n.*478T>C
ENST00000554550.5:c.*354T>C	ENSP00000451435.1:n.*354T>C
ENST00000554638.5:n.1206T>C
ENST00000555020.5:n.1195T>C
ENST00000555086.5:n.738T>C
ENST00000555754.1:n.79T>C
ENST00000556244.1:c.721T>C
ENST00000556278.1:c.432+352T>C	ENSP00000451792.1:n.432+352T>C
ENST00000557706.5:n.1296T>C
NM_000155.3:c.734T>C	NP_000146.2:p.Phe245Ser
NM_001258332.1:c.407T>C	NP_001245261.1:p.Phe136Ser
NM_000155.4:c.734T>C MANE Select	NP_000146.2:p.Phe245Ser
NM_001258332.2:c.407T>C	NP_001245261.1:p.Phe136Ser