Canonical Allele Identifier: CA2579371125

Gene: GALT

Linked Data

• gnomAD v4: 9-34647300-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647300G>C , CM000671.2:g.34647300G>C	GRCh38
NC_000009.11:g.34647297G>C , CM000671.1:g.34647297G>C	GRCh37
NC_000009.10:g.34637297G>C	NCBI36
NG_009029.1:g.5663G>C
NG_028966.1:g.116G>C
NG_009029.2:g.5712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+42G>C	ENSP00000509954.1:n.252+42G>C
ENST00000378842.8:c.252+42G>C MANE Select	ENSP00000368119.4:n.252+42G>C
ENST00000378842.7:c.252+42G>C	ENSP00000368119.3:n.252+42G>C
ENST00000450095.6:c.50+42G>C	ENSP00000401956.2:n.50+42G>C
ENST00000465543.6:n.591+42G>C
ENST00000468099.2:n.334G>C
ENST00000472111.5:n.293+42G>C
ENST00000473506.6:c.252+42G>C	ENSP00000432839.2:n.252+42G>C
ENST00000473529.5:n.299+42G>C
ENST00000485531.1:n.287G>C
ENST00000487381.5:n.320G>C
ENST00000489643.6:n.282+42G>C
ENST00000554085.5:c.252+42G>C	ENSP00000450419.1:n.252+42G>C
ENST00000554139.5:n.305+42G>C
ENST00000554330.5:n.249+42G>C
ENST00000554550.5:c.252+42G>C	ENSP00000451435.1:n.252+42G>C
ENST00000554638.5:n.318G>C
ENST00000554897.5:c.252+42G>C	ENSP00000450942.1:n.252+42G>C
ENST00000554944.5:n.282+42G>C
ENST00000555020.5:n.282+42G>C
ENST00000555086.5:n.256+42G>C
ENST00000555214.5:n.261+42G>C
ENST00000556157.1:n.359+42G>C
ENST00000556244.1:c.136+42G>C
ENST00000556278.1:c.252+42G>C	ENSP00000451792.1:n.252+42G>C
ENST00000556403.5:n.265+42G>C
ENST00000556494.5:n.284+42G>C
ENST00000557541.5:n.445+42G>C
ENST00000557706.5:n.408G>C
NM_000155.3:c.252+42G>C	NP_000146.2:n.252+42G>C
NM_001258332.1:c.50+42G>C	NP_001245261.1:n.50+42G>C
NM_000155.4:c.252+42G>C MANE Select	NP_000146.2:n.252+42G>C
NM_001258332.2:c.50+42G>C	NP_001245261.1:n.50+42G>C