Canonical Allele Identifier: CA2689808679

Gene: GALT

Linked Data

• gnomAD v4: 9-34648034-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648034T>C , CM000671.2:g.34648034T>C	GRCh38
NC_000009.11:g.34648031T>C , CM000671.1:g.34648031T>C	GRCh37
NC_000009.10:g.34638031T>C	NCBI36
NG_009029.1:g.6397T>C
NG_028966.1:g.850T>C
NG_009029.2:g.6446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+73T>C	ENSP00000509954.1:n.*95+73T>C
ENST00000378842.8:c.507+73T>C MANE Select	ENSP00000368119.4:n.507+73T>C
ENST00000378842.7:c.507+73T>C	ENSP00000368119.3:n.507+73T>C
ENST00000450095.6:c.180+73T>C	ENSP00000401956.2:n.180+73T>C
ENST00000465543.6:n.846+73T>C
ENST00000472111.5:n.763+73T>C
ENST00000473506.6:c.*95+73T>C	ENSP00000432839.2:n.*95+73T>C
ENST00000473529.5:n.644-58T>C
ENST00000485531.1:n.1021T>C
ENST00000487381.5:n.892+73T>C
ENST00000489643.6:n.283-81T>C
ENST00000554085.5:c.*251+73T>C	ENSP00000450419.1:n.*251+73T>C
ENST00000554139.5:n.687-14T>C
ENST00000554550.5:c.*127+73T>C	ENSP00000451435.1:n.*127+73T>C
ENST00000554638.5:n.979+73T>C
ENST00000554897.5:c.*128-14T>C	ENSP00000450942.1:n.*128-14T>C
ENST00000554944.5:n.776T>C
ENST00000555020.5:n.663+73T>C
ENST00000555086.5:n.511+73T>C
ENST00000555214.5:n.262-14T>C
ENST00000556244.1:c.494+73T>C
ENST00000556278.1:c.253-81T>C	ENSP00000451792.1:n.253-81T>C
ENST00000556494.5:n.628+73T>C
ENST00000557706.5:n.1069+73T>C
NM_000155.3:c.507+73T>C	NP_000146.2:n.507+73T>C
NM_001258332.1:c.180+73T>C	NP_001245261.1:n.180+73T>C
NM_000155.4:c.507+73T>C MANE Select	NP_000146.2:n.507+73T>C
NM_001258332.2:c.180+73T>C	NP_001245261.1:n.180+73T>C