Canonical Allele Identifier: CA587568421

Gene: GALT

Linked Data

• dbSNP Id: rs1307060059
• gnomAD v2: 9-34648505-C-T
• gnomAD v3: 9-34648508-C-T
• gnomAD v4: 9-34648508-C-T
• MyVariant Identifiers: chr9:g.34648505C>T (hg19) ; chr9:g.34648508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648508C>T , CM000671.2:g.34648508C>T	GRCh38
NC_000009.11:g.34648505C>T , CM000671.1:g.34648505C>T	GRCh37
NC_000009.10:g.34638505C>T	NCBI36
NG_009029.1:g.6871C>T
NG_028966.1:g.1324C>T
NG_009029.2:g.6920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275+52C>T	ENSP00000509954.1:n.*275+52C>T
ENST00000378842.8:c.687+52C>T MANE Select	ENSP00000368119.4:n.687+52C>T
ENST00000378842.7:c.687+52C>T	ENSP00000368119.3:n.687+52C>T
ENST00000450095.6:c.360+52C>T	ENSP00000401956.2:n.360+52C>T
ENST00000473506.6:c.*275+52C>T	ENSP00000432839.2:n.*275+52C>T
ENST00000473529.5:n.846+52C>T
ENST00000487381.5:n.1124C>T
ENST00000489643.6:n.514C>T
ENST00000554085.5:c.*431+52C>T	ENSP00000450419.1:n.*431+52C>T
ENST00000554550.5:c.*307+52C>T	ENSP00000451435.1:n.*307+52C>T
ENST00000554638.5:n.1159+52C>T
ENST00000555020.5:n.895C>T
ENST00000555086.5:n.691+52C>T
ENST00000555214.5:n.560C>T
ENST00000555754.1:n.32+52C>T
ENST00000556244.1:c.674+52C>T
ENST00000556278.1:c.432+52C>T	ENSP00000451792.1:n.432+52C>T
ENST00000556494.5:n.860C>T
ENST00000557706.5:n.1249+52C>T
NM_000155.3:c.687+52C>T	NP_000146.2:n.687+52C>T
NM_001258332.1:c.360+52C>T	NP_001245261.1:n.360+52C>T
NM_000155.4:c.687+52C>T MANE Select	NP_000146.2:n.687+52C>T
NM_001258332.2:c.360+52C>T	NP_001245261.1:n.360+52C>T