Canonical Allele Identifier: CA373284686

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649421T>C (hg19) ; chr9:g.34649424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649424T>C , CM000671.2:g.34649424T>C	GRCh38
NC_000009.11:g.34649421T>C , CM000671.1:g.34649421T>C	GRCh37
NC_000009.10:g.34639421T>C	NCBI36
NG_009029.1:g.7787T>C
NG_028966.1:g.2240T>C
NG_009029.2:g.7836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*507T>C	ENSP00000509954.1:n.*507T>C
ENST00000378842.8:c.919T>C MANE Select	ENSP00000368119.4:p.Ser307Pro
ENST00000378842.7:c.919T>C	ENSP00000368119.3:p.Ser307Pro
ENST00000450095.6:c.592T>C	ENSP00000401956.2:p.Ser198Pro
ENST00000488412.2:n.503T>C
ENST00000489643.6:n.1327T>C
ENST00000554550.5:c.*539T>C	ENSP00000451435.1:n.*539T>C
ENST00000554638.5:n.1391T>C
ENST00000555020.5:n.1708T>C
ENST00000555754.1:n.367T>C
ENST00000556278.1:c.432+968T>C	ENSP00000451792.1:n.432+968T>C
ENST00000557706.5:n.1494T>C
NM_000155.3:c.919T>C	NP_000146.2:p.Ser307Pro
NM_001258332.1:c.592T>C	NP_001245261.1:p.Ser198Pro
NM_000155.4:c.919T>C MANE Select	NP_000146.2:p.Ser307Pro
NM_001258332.2:c.592T>C	NP_001245261.1:p.Ser198Pro