Canonical Allele Identifier: CA373282243

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648421A>C (hg19) ; chr9:g.34648424A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648424A>C , CM000671.2:g.34648424A>C	GRCh38
NC_000009.11:g.34648421A>C , CM000671.1:g.34648421A>C	GRCh37
NC_000009.10:g.34638421A>C	NCBI36
NG_009029.1:g.6787A>C
NG_028966.1:g.1240A>C
NG_009029.2:g.6836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*243A>C	ENSP00000509954.1:n.*243A>C
ENST00000378842.8:c.655A>C MANE Select	ENSP00000368119.4:p.Met219Leu
ENST00000378842.7:c.655A>C	ENSP00000368119.3:p.Met219Leu
ENST00000450095.6:c.328A>C	ENSP00000401956.2:p.Met110Leu
ENST00000472111.5:n.911A>C
ENST00000473506.6:c.*243A>C	ENSP00000432839.2:n.*243A>C
ENST00000473529.5:n.814A>C
ENST00000487381.5:n.1040A>C
ENST00000489643.6:n.430A>C
ENST00000554085.5:c.*399A>C	ENSP00000450419.1:n.*399A>C
ENST00000554550.5:c.*275A>C	ENSP00000451435.1:n.*275A>C
ENST00000554638.5:n.1127A>C
ENST00000555020.5:n.811A>C
ENST00000555086.5:n.659A>C
ENST00000555214.5:n.476A>C
ENST00000556244.1:c.642A>C
ENST00000556278.1:c.400A>C	ENSP00000451792.1:p.Met134Leu
ENST00000556494.5:n.776A>C
ENST00000557706.5:n.1217A>C
NM_000155.3:c.655A>C	NP_000146.2:p.Met219Leu
NM_001258332.1:c.328A>C	NP_001245261.1:p.Met110Leu
NM_000155.4:c.655A>C MANE Select	NP_000146.2:p.Met219Leu
NM_001258332.2:c.328A>C	NP_001245261.1:p.Met110Leu