Canonical Allele Identifier: CA2719563238

Gene: GALT

Linked Data

• dbSNP Id: rs2132343473

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648024G>C , CM000671.2:g.34648024G>C	GRCh38
NC_000009.11:g.34648021G>C , CM000671.1:g.34648021G>C	GRCh37
NC_000009.10:g.34638021G>C	NCBI36
NG_009029.1:g.6387G>C
NG_028966.1:g.840G>C
NG_009029.2:g.6436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+63G>C	ENSP00000509954.1:n.*95+63G>C
ENST00000378842.8:c.507+63G>C MANE Select	ENSP00000368119.4:n.507+63G>C
ENST00000378842.7:c.507+63G>C	ENSP00000368119.3:n.507+63G>C
ENST00000450095.6:c.180+63G>C	ENSP00000401956.2:n.180+63G>C
ENST00000465543.6:n.846+63G>C
ENST00000472111.5:n.763+63G>C
ENST00000473506.6:c.*95+63G>C	ENSP00000432839.2:n.*95+63G>C
ENST00000473529.5:n.643+63G>C
ENST00000485531.1:n.1011G>C
ENST00000487381.5:n.892+63G>C
ENST00000489643.6:n.283-91G>C
ENST00000554085.5:c.*251+63G>C	ENSP00000450419.1:n.*251+63G>C
ENST00000554139.5:n.687-24G>C
ENST00000554550.5:c.*127+63G>C	ENSP00000451435.1:n.*127+63G>C
ENST00000554638.5:n.979+63G>C
ENST00000554897.5:c.*128-24G>C	ENSP00000450942.1:n.*128-24G>C
ENST00000554944.5:n.766G>C
ENST00000555020.5:n.663+63G>C
ENST00000555086.5:n.511+63G>C
ENST00000555214.5:n.262-24G>C
ENST00000556244.1:c.494+63G>C
ENST00000556278.1:c.253-91G>C	ENSP00000451792.1:n.253-91G>C
ENST00000556494.5:n.628+63G>C
ENST00000557706.5:n.1069+63G>C
NM_000155.3:c.507+63G>C	NP_000146.2:n.507+63G>C
NM_001258332.1:c.180+63G>C	NP_001245261.1:n.180+63G>C
NM_000155.4:c.507+63G>C MANE Select	NP_000146.2:n.507+63G>C
NM_001258332.2:c.180+63G>C	NP_001245261.1:n.180+63G>C