Canonical Allele Identifier: CA373283735

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648813A>C (hg19) ; chr9:g.34648816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648816A>C , CM000671.2:g.34648816A>C	GRCh38
NC_000009.11:g.34648813A>C , CM000671.1:g.34648813A>C	GRCh37
NC_000009.10:g.34638813A>C	NCBI36
NG_009029.1:g.7179A>C
NG_028966.1:g.1632A>C
NG_009029.2:g.7228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*330A>C	ENSP00000509954.1:n.*330A>C
ENST00000378842.8:c.742A>C MANE Select	ENSP00000368119.4:p.Thr248Pro
ENST00000378842.7:c.742A>C	ENSP00000368119.3:p.Thr248Pro
ENST00000450095.6:c.415A>C	ENSP00000401956.2:p.Thr139Pro
ENST00000473506.6:c.*330A>C	ENSP00000432839.2:n.*330A>C
ENST00000473529.5:n.901A>C
ENST00000487381.5:n.1432A>C
ENST00000489643.6:n.822A>C
ENST00000554085.5:c.*486A>C	ENSP00000450419.1:n.*486A>C
ENST00000554550.5:c.*362A>C	ENSP00000451435.1:n.*362A>C
ENST00000554638.5:n.1214A>C
ENST00000555020.5:n.1203A>C
ENST00000555086.5:n.746A>C
ENST00000555754.1:n.87A>C
ENST00000556244.1:c.729A>C
ENST00000556278.1:c.432+360A>C	ENSP00000451792.1:n.432+360A>C
ENST00000557706.5:n.1304A>C
NM_000155.3:c.742A>C	NP_000146.2:p.Thr248Pro
NM_001258332.1:c.415A>C	NP_001245261.1:p.Thr139Pro
NM_000155.4:c.742A>C MANE Select	NP_000146.2:p.Thr248Pro
NM_001258332.2:c.415A>C	NP_001245261.1:p.Thr139Pro