Canonical Allele Identifier: CA1123157442

Gene: GALT

Linked Data

• dbSNP Id: rs1821170985
• gnomAD v3: 9-34648588-A-C
• gnomAD v4: 9-34648588-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648588A>C , CM000671.2:g.34648588A>C	GRCh38
NC_000009.11:g.34648585A>C , CM000671.1:g.34648585A>C	GRCh37
NC_000009.10:g.34638585A>C	NCBI36
NG_009029.1:g.6951A>C
NG_028966.1:g.1404A>C
NG_009029.2:g.7000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+132A>C	ENSP00000509954.1:n.*275+132A>C
ENST00000378842.8:c.687+132A>C MANE Select	ENSP00000368119.4:n.687+132A>C
ENST00000378842.7:c.687+132A>C	ENSP00000368119.3:n.687+132A>C
ENST00000450095.6:c.360+132A>C	ENSP00000401956.2:n.360+132A>C
ENST00000473506.6:c.*275+132A>C	ENSP00000432839.2:n.*275+132A>C
ENST00000473529.5:n.846+132A>C
ENST00000487381.5:n.1204A>C
ENST00000489643.6:n.594A>C
ENST00000554085.5:c.*431+132A>C	ENSP00000450419.1:n.*431+132A>C
ENST00000554550.5:c.*307+132A>C	ENSP00000451435.1:n.*307+132A>C
ENST00000554638.5:n.1159+132A>C
ENST00000555020.5:n.975A>C
ENST00000555086.5:n.691+132A>C
ENST00000555214.5:n.640A>C
ENST00000555754.1:n.32+132A>C
ENST00000556244.1:c.674+132A>C
ENST00000556278.1:c.432+132A>C	ENSP00000451792.1:n.432+132A>C
ENST00000557706.5:n.1249+132A>C
NM_000155.3:c.687+132A>C	NP_000146.2:n.687+132A>C
NM_001258332.1:c.360+132A>C	NP_001245261.1:n.360+132A>C
NM_000155.4:c.687+132A>C MANE Select	NP_000146.2:n.687+132A>C
NM_001258332.2:c.360+132A>C	NP_001245261.1:n.360+132A>C