Canonical Allele Identifier: CA373282235

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648419T>C (hg19) ; chr9:g.34648422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648422T>C , CM000671.2:g.34648422T>C	GRCh38
NC_000009.11:g.34648419T>C , CM000671.1:g.34648419T>C	GRCh37
NC_000009.10:g.34638419T>C	NCBI36
NG_009029.1:g.6785T>C
NG_028966.1:g.1238T>C
NG_009029.2:g.6834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*241T>C	ENSP00000509954.1:n.*241T>C
ENST00000378842.8:c.653T>C MANE Select	ENSP00000368119.4:p.Leu218Pro
ENST00000378842.7:c.653T>C	ENSP00000368119.3:p.Leu218Pro
ENST00000450095.6:c.326T>C	ENSP00000401956.2:p.Leu109Pro
ENST00000472111.5:n.909T>C
ENST00000473506.6:c.*241T>C	ENSP00000432839.2:n.*241T>C
ENST00000473529.5:n.812T>C
ENST00000487381.5:n.1038T>C
ENST00000489643.6:n.428T>C
ENST00000554085.5:c.*397T>C	ENSP00000450419.1:n.*397T>C
ENST00000554550.5:c.*273T>C	ENSP00000451435.1:n.*273T>C
ENST00000554638.5:n.1125T>C
ENST00000555020.5:n.809T>C
ENST00000555086.5:n.657T>C
ENST00000555214.5:n.474T>C
ENST00000556244.1:c.640T>C
ENST00000556278.1:c.398T>C	ENSP00000451792.1:p.Leu133Pro
ENST00000556494.5:n.774T>C
ENST00000557706.5:n.1215T>C
NM_000155.3:c.653T>C	NP_000146.2:p.Leu218Pro
NM_001258332.1:c.326T>C	NP_001245261.1:p.Leu109Pro
NM_000155.4:c.653T>C MANE Select	NP_000146.2:p.Leu218Pro
NM_001258332.2:c.326T>C	NP_001245261.1:p.Leu109Pro