Canonical Allele Identifier: CA2719564182

Gene: GALT

Linked Data

• dbSNP Id: rs2132344737

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648708A>C , CM000671.2:g.34648708A>C	GRCh38
NC_000009.11:g.34648705A>C , CM000671.1:g.34648705A>C	GRCh37
NC_000009.10:g.34638705A>C	NCBI36
NG_009029.1:g.7071A>C
NG_028966.1:g.1524A>C
NG_009029.2:g.7120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*276-54A>C	ENSP00000509954.1:n.*276-54A>C
ENST00000378842.8:c.688-54A>C MANE Select	ENSP00000368119.4:n.688-54A>C
ENST00000378842.7:c.688-54A>C	ENSP00000368119.3:n.688-54A>C
ENST00000450095.6:c.361-54A>C	ENSP00000401956.2:n.361-54A>C
ENST00000473506.6:c.*276-54A>C	ENSP00000432839.2:n.*276-54A>C
ENST00000473529.5:n.847-54A>C
ENST00000487381.5:n.1324A>C
ENST00000489643.6:n.714A>C
ENST00000554085.5:c.*432-54A>C	ENSP00000450419.1:n.*432-54A>C
ENST00000554550.5:c.*308-54A>C	ENSP00000451435.1:n.*308-54A>C
ENST00000554638.5:n.1160-54A>C
ENST00000555020.5:n.1095A>C
ENST00000555086.5:n.692-54A>C
ENST00000555754.1:n.33-54A>C
ENST00000556244.1:c.675-54A>C
ENST00000556278.1:c.432+252A>C	ENSP00000451792.1:n.432+252A>C
ENST00000557706.5:n.1250-54A>C
NM_000155.3:c.688-54A>C	NP_000146.2:n.688-54A>C
NM_001258332.1:c.361-54A>C	NP_001245261.1:n.361-54A>C
NM_000155.4:c.688-54A>C MANE Select	NP_000146.2:n.688-54A>C
NM_001258332.2:c.361-54A>C	NP_001245261.1:n.361-54A>C