Canonical Allele Identifier: CA373283635

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648804T>C (hg19) ; chr9:g.34648807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648807T>C , CM000671.2:g.34648807T>C	GRCh38
NC_000009.11:g.34648804T>C , CM000671.1:g.34648804T>C	GRCh37
NC_000009.10:g.34638804T>C	NCBI36
NG_009029.1:g.7170T>C
NG_028966.1:g.1623T>C
NG_009029.2:g.7219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*321T>C	ENSP00000509954.1:n.*321T>C
ENST00000378842.8:c.733T>C MANE Select	ENSP00000368119.4:p.Phe245Leu
ENST00000378842.7:c.733T>C	ENSP00000368119.3:p.Phe245Leu
ENST00000450095.6:c.406T>C	ENSP00000401956.2:p.Phe136Leu
ENST00000473506.6:c.*321T>C	ENSP00000432839.2:n.*321T>C
ENST00000473529.5:n.892T>C
ENST00000487381.5:n.1423T>C
ENST00000489643.6:n.813T>C
ENST00000554085.5:c.*477T>C	ENSP00000450419.1:n.*477T>C
ENST00000554550.5:c.*353T>C	ENSP00000451435.1:n.*353T>C
ENST00000554638.5:n.1205T>C
ENST00000555020.5:n.1194T>C
ENST00000555086.5:n.737T>C
ENST00000555754.1:n.78T>C
ENST00000556244.1:c.720T>C
ENST00000556278.1:c.432+351T>C	ENSP00000451792.1:n.432+351T>C
ENST00000557706.5:n.1295T>C
NM_000155.3:c.733T>C	NP_000146.2:p.Phe245Leu
NM_001258332.1:c.406T>C	NP_001245261.1:p.Phe136Leu
NM_000155.4:c.733T>C MANE Select	NP_000146.2:p.Phe245Leu
NM_001258332.2:c.406T>C	NP_001245261.1:p.Phe136Leu