Canonical Allele Identifier: CA2719562128

Gene: GALT

Linked Data

• dbSNP Id: rs2132341856

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647261A>C , CM000671.2:g.34647261A>C	GRCh38
NC_000009.11:g.34647258A>C , CM000671.1:g.34647258A>C	GRCh37
NC_000009.10:g.34637258A>C	NCBI36
NG_009029.1:g.5624A>C
NG_028966.1:g.77A>C
NG_009029.2:g.5673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+3A>C	ENSP00000509954.1:n.252+3A>C
ENST00000378842.8:c.252+3A>C MANE Select	ENSP00000368119.4:n.252+3A>C
ENST00000378842.7:c.252+3A>C	ENSP00000368119.3:n.252+3A>C
ENST00000450095.6:c.50+3A>C	ENSP00000401956.2:n.50+3A>C
ENST00000465543.6:n.591+3A>C
ENST00000468099.2:n.295A>C
ENST00000472111.5:n.293+3A>C
ENST00000473506.6:c.252+3A>C	ENSP00000432839.2:n.252+3A>C
ENST00000473529.5:n.299+3A>C
ENST00000485531.1:n.248A>C
ENST00000487381.5:n.281A>C
ENST00000489643.6:n.282+3A>C
ENST00000554085.5:c.252+3A>C	ENSP00000450419.1:n.252+3A>C
ENST00000554139.5:n.305+3A>C
ENST00000554330.5:n.249+3A>C
ENST00000554550.5:c.252+3A>C	ENSP00000451435.1:n.252+3A>C
ENST00000554638.5:n.279A>C
ENST00000554897.5:c.252+3A>C	ENSP00000450942.1:n.252+3A>C
ENST00000554944.5:n.282+3A>C
ENST00000555020.5:n.282+3A>C
ENST00000555086.5:n.256+3A>C
ENST00000555214.5:n.261+3A>C
ENST00000556157.1:n.359+3A>C
ENST00000556244.1:c.136+3A>C
ENST00000556278.1:c.252+3A>C	ENSP00000451792.1:n.252+3A>C
ENST00000556403.5:n.265+3A>C
ENST00000556494.5:n.284+3A>C
ENST00000557541.5:n.445+3A>C
ENST00000557706.5:n.369A>C
NM_000155.3:c.252+3A>C	NP_000146.2:n.252+3A>C
NM_001258332.1:c.50+3A>C	NP_001245261.1:n.50+3A>C
NM_000155.4:c.252+3A>C MANE Select	NP_000146.2:n.252+3A>C
NM_001258332.2:c.50+3A>C	NP_001245261.1:n.50+3A>C