Canonical Allele Identifier: CA373283588

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648796T>C (hg19) ; chr9:g.34648799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648799T>C , CM000671.2:g.34648799T>C	GRCh38
NC_000009.11:g.34648796T>C , CM000671.1:g.34648796T>C	GRCh37
NC_000009.10:g.34638796T>C	NCBI36
NG_009029.1:g.7162T>C
NG_028966.1:g.1615T>C
NG_009029.2:g.7211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*313T>C	ENSP00000509954.1:n.*313T>C
ENST00000378842.8:c.725T>C MANE Select	ENSP00000368119.4:p.Leu242Pro
ENST00000378842.7:c.725T>C	ENSP00000368119.3:p.Leu242Pro
ENST00000450095.6:c.398T>C	ENSP00000401956.2:p.Leu133Pro
ENST00000473506.6:c.*313T>C	ENSP00000432839.2:n.*313T>C
ENST00000473529.5:n.884T>C
ENST00000487381.5:n.1415T>C
ENST00000489643.6:n.805T>C
ENST00000554085.5:c.*469T>C	ENSP00000450419.1:n.*469T>C
ENST00000554550.5:c.*345T>C	ENSP00000451435.1:n.*345T>C
ENST00000554638.5:n.1197T>C
ENST00000555020.5:n.1186T>C
ENST00000555086.5:n.729T>C
ENST00000555754.1:n.70T>C
ENST00000556244.1:c.712T>C
ENST00000556278.1:c.432+343T>C	ENSP00000451792.1:n.432+343T>C
ENST00000557706.5:n.1287T>C
NM_000155.3:c.725T>C	NP_000146.2:p.Leu242Pro
NM_001258332.1:c.398T>C	NP_001245261.1:p.Leu133Pro
NM_000155.4:c.725T>C MANE Select	NP_000146.2:p.Leu242Pro
NM_001258332.2:c.398T>C	NP_001245261.1:p.Leu133Pro