Canonical Allele Identifier: CA373284993

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649479T>C (hg19) ; chr9:g.34649482T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649482T>C , CM000671.2:g.34649482T>C	GRCh38
NC_000009.11:g.34649479T>C , CM000671.1:g.34649479T>C	GRCh37
NC_000009.10:g.34639479T>C	NCBI36
NG_009029.1:g.7845T>C
NG_028966.1:g.2298T>C
NG_009029.2:g.7894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*565T>C	ENSP00000509954.1:n.*565T>C
ENST00000378842.8:c.977T>C MANE Select	ENSP00000368119.4:p.Leu326Pro
ENST00000378842.7:c.977T>C	ENSP00000368119.3:p.Leu326Pro
ENST00000450095.6:c.650T>C	ENSP00000401956.2:p.Leu217Pro
ENST00000488412.2:n.561T>C
ENST00000489643.6:n.1385T>C
ENST00000554550.5:c.*597T>C	ENSP00000451435.1:n.*597T>C
ENST00000554638.5:n.1449T>C
ENST00000555020.5:n.1766T>C
ENST00000555754.1:n.425T>C
ENST00000556278.1:c.432+1026T>C	ENSP00000451792.1:n.432+1026T>C
ENST00000557706.5:n.1552T>C
NM_000155.3:c.977T>C	NP_000146.2:p.Leu326Pro
NM_001258332.1:c.650T>C	NP_001245261.1:p.Leu217Pro
NM_000155.4:c.977T>C MANE Select	NP_000146.2:p.Leu326Pro
NM_001258332.2:c.650T>C	NP_001245261.1:p.Leu217Pro