Canonical Allele Identifier: CA2689808630

Gene: GALT

Linked Data

• gnomAD v4: 9-34647614-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647614T>C , CM000671.2:g.34647614T>C	GRCh38
NC_000009.11:g.34647611T>C , CM000671.1:g.34647611T>C	GRCh37
NC_000009.10:g.34637611T>C	NCBI36
NG_009029.1:g.5977T>C
NG_028966.1:g.430T>C
NG_009029.2:g.6026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+47T>C	ENSP00000509954.1:n.328+47T>C
ENST00000378842.8:c.329-43T>C MANE Select	ENSP00000368119.4:n.329-43T>C
ENST00000378842.7:c.329-43T>C	ENSP00000368119.3:n.329-43T>C
ENST00000450095.6:c.51-218T>C	ENSP00000401956.2:n.51-218T>C
ENST00000465543.6:n.668-43T>C
ENST00000472111.5:n.416T>C
ENST00000473506.6:c.280-43T>C	ENSP00000432839.2:n.280-43T>C
ENST00000473529.5:n.422T>C
ENST00000485531.1:n.601T>C
ENST00000487381.5:n.588-43T>C
ENST00000489643.6:n.282+356T>C
ENST00000554085.5:c.*73-43T>C	ENSP00000450419.1:n.*73-43T>C
ENST00000554139.5:n.382-43T>C
ENST00000554330.5:n.323T>C
ENST00000554550.5:c.253-218T>C	ENSP00000451435.1:n.253-218T>C
ENST00000554638.5:n.632T>C
ENST00000554897.5:c.253-218T>C	ENSP00000450942.1:n.253-218T>C
ENST00000554944.5:n.356T>C
ENST00000555020.5:n.359-43T>C
ENST00000555086.5:n.333-43T>C
ENST00000555214.5:n.261+356T>C
ENST00000556157.1:n.453-43T>C
ENST00000556244.1:c.316-43T>C
ENST00000556278.1:c.252+356T>C	ENSP00000451792.1:n.252+356T>C
ENST00000556403.5:n.388T>C
ENST00000556494.5:n.407T>C
ENST00000557541.5:n.473-43T>C
ENST00000557706.5:n.722T>C
NM_000155.3:c.329-43T>C	NP_000146.2:n.329-43T>C
NM_001258332.1:c.51-218T>C	NP_001245261.1:n.51-218T>C
NM_000155.4:c.329-43T>C MANE Select	NP_000146.2:n.329-43T>C
NM_001258332.2:c.51-218T>C	NP_001245261.1:n.51-218T>C