Canonical Allele Identifier: CA2522979882

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648955T>C , CM000671.2:g.34648955T>C	GRCh38
NC_000009.11:g.34648952T>C , CM000671.1:g.34648952T>C	GRCh37
NC_000009.10:g.34638952T>C	NCBI36
NG_009029.1:g.7318T>C
NG_028966.1:g.1771T>C
NG_009029.2:g.7367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*409-43T>C	ENSP00000509954.1:n.*409-43T>C
ENST00000378842.8:c.821-43T>C MANE Select	ENSP00000368119.4:n.821-43T>C
ENST00000378842.7:c.821-43T>C	ENSP00000368119.3:n.821-43T>C
ENST00000450095.6:c.494-43T>C	ENSP00000401956.2:n.494-43T>C
ENST00000488412.2:n.34T>C
ENST00000489643.6:n.901-43T>C
ENST00000554085.5:c.*565-43T>C	ENSP00000450419.1:n.*565-43T>C
ENST00000554550.5:c.*441-43T>C	ENSP00000451435.1:n.*441-43T>C
ENST00000554638.5:n.1293-43T>C
ENST00000555020.5:n.1282-43T>C
ENST00000555086.5:n.885T>C
ENST00000555754.1:n.226T>C
ENST00000556278.1:c.432+499T>C	ENSP00000451792.1:n.432+499T>C
ENST00000557706.5:n.1396-43T>C
NM_000155.3:c.821-43T>C	NP_000146.2:n.821-43T>C
NM_001258332.1:c.494-43T>C	NP_001245261.1:n.494-43T>C
NM_000155.4:c.821-43T>C MANE Select	NP_000146.2:n.821-43T>C
NM_001258332.2:c.494-43T>C	NP_001245261.1:n.494-43T>C