Canonical Allele Identifier: CA373283616

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648799T>C (hg19) ; chr9:g.34648802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648802T>C , CM000671.2:g.34648802T>C	GRCh38
NC_000009.11:g.34648799T>C , CM000671.1:g.34648799T>C	GRCh37
NC_000009.10:g.34638799T>C	NCBI36
NG_009029.1:g.7165T>C
NG_028966.1:g.1618T>C
NG_009029.2:g.7214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*316T>C	ENSP00000509954.1:n.*316T>C
ENST00000378842.8:c.728T>C MANE Select	ENSP00000368119.4:p.Val243Ala
ENST00000378842.7:c.728T>C	ENSP00000368119.3:p.Val243Ala
ENST00000450095.6:c.401T>C	ENSP00000401956.2:p.Val134Ala
ENST00000473506.6:c.*316T>C	ENSP00000432839.2:n.*316T>C
ENST00000473529.5:n.887T>C
ENST00000487381.5:n.1418T>C
ENST00000489643.6:n.808T>C
ENST00000554085.5:c.*472T>C	ENSP00000450419.1:n.*472T>C
ENST00000554550.5:c.*348T>C	ENSP00000451435.1:n.*348T>C
ENST00000554638.5:n.1200T>C
ENST00000555020.5:n.1189T>C
ENST00000555086.5:n.732T>C
ENST00000555754.1:n.73T>C
ENST00000556244.1:c.715T>C
ENST00000556278.1:c.432+346T>C	ENSP00000451792.1:n.432+346T>C
ENST00000557706.5:n.1290T>C
NM_000155.3:c.728T>C	NP_000146.2:p.Val243Ala
NM_001258332.1:c.401T>C	NP_001245261.1:p.Val134Ala
NM_000155.4:c.728T>C MANE Select	NP_000146.2:p.Val243Ala
NM_001258332.2:c.401T>C	NP_001245261.1:p.Val134Ala