Canonical Allele Identifier: CA373284261

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649019T>C (hg19) ; chr9:g.34649022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649022T>C , CM000671.2:g.34649022T>C	GRCh38
NC_000009.11:g.34649019T>C , CM000671.1:g.34649019T>C	GRCh37
NC_000009.10:g.34639019T>C	NCBI36
NG_009029.1:g.7385T>C
NG_028966.1:g.1838T>C
NG_009029.2:g.7434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*433T>C	ENSP00000509954.1:n.*433T>C
ENST00000378842.8:c.845T>C MANE Select	ENSP00000368119.4:p.Leu282Pro
ENST00000378842.7:c.845T>C	ENSP00000368119.3:p.Leu282Pro
ENST00000450095.6:c.518T>C	ENSP00000401956.2:p.Leu173Pro
ENST00000488412.2:n.101T>C
ENST00000489643.6:n.925T>C
ENST00000554085.5:c.*589T>C	ENSP00000450419.1:n.*589T>C
ENST00000554550.5:c.*465T>C	ENSP00000451435.1:n.*465T>C
ENST00000554638.5:n.1317T>C
ENST00000555020.5:n.1306T>C
ENST00000555086.5:n.952T>C
ENST00000555754.1:n.293T>C
ENST00000556278.1:c.432+566T>C	ENSP00000451792.1:n.432+566T>C
ENST00000557706.5:n.1420T>C
NM_000155.3:c.845T>C	NP_000146.2:p.Leu282Pro
NM_001258332.1:c.518T>C	NP_001245261.1:p.Leu173Pro
NM_000155.4:c.845T>C MANE Select	NP_000146.2:p.Leu282Pro
NM_001258332.2:c.518T>C	NP_001245261.1:p.Leu173Pro