Canonical Allele Identifier: CA5036074

Gene: GALT

Linked Data

• dbSNP Id: rs750300963
• ExAC: 9:34647476 T / G
• gnomAD v2: 9-34647476-T-G
• gnomAD v3: 9-34647479-T-G
• gnomAD v4: 9-34647479-T-G
• MyVariant Identifiers: chr9:g.34647476T>G (hg19) ; chr9:g.34647479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647479T>G , CM000671.2:g.34647479T>G	GRCh38
NC_000009.11:g.34647476T>G , CM000671.1:g.34647476T>G	GRCh37
NC_000009.10:g.34637476T>G	NCBI36
NG_009029.1:g.5842T>G
NG_028966.1:g.295T>G
NG_009029.2:g.5891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-13T>G	ENSP00000509954.1:n.253-13T>G
ENST00000378842.8:c.253-13T>G MANE Select	ENSP00000368119.4:n.253-13T>G
ENST00000378842.7:c.253-13T>G	ENSP00000368119.3:n.253-13T>G
ENST00000450095.6:c.50+221T>G	ENSP00000401956.2:n.50+221T>G
ENST00000465543.6:n.592-13T>G
ENST00000468099.2:n.513T>G
ENST00000472111.5:n.294-13T>G
ENST00000473506.6:c.253-62T>G	ENSP00000432839.2:n.253-62T>G
ENST00000473529.5:n.300-13T>G
ENST00000485531.1:n.466T>G
ENST00000487381.5:n.499T>G
ENST00000489643.6:n.282+221T>G
ENST00000554085.5:c.257T>G	ENSP00000450419.1:p.Ile86Ser
ENST00000554139.5:n.306-13T>G
ENST00000554330.5:n.250-62T>G
ENST00000554550.5:c.252+221T>G	ENSP00000451435.1:n.252+221T>G
ENST00000554638.5:n.497T>G
ENST00000554897.5:c.252+221T>G	ENSP00000450942.1:n.252+221T>G
ENST00000554944.5:n.283-62T>G
ENST00000555020.5:n.283-13T>G
ENST00000555086.5:n.257-13T>G
ENST00000555214.5:n.261+221T>G
ENST00000556157.1:n.364T>G
ENST00000556244.1:c.227T>G
ENST00000556278.1:c.252+221T>G	ENSP00000451792.1:n.252+221T>G
ENST00000556403.5:n.266-13T>G
ENST00000556494.5:n.285-13T>G
ENST00000557541.5:n.446-62T>G
ENST00000557706.5:n.587T>G
NM_000155.3:c.253-13T>G	NP_000146.2:n.253-13T>G
NM_001258332.1:c.50+221T>G	NP_001245261.1:n.50+221T>G
NM_000155.4:c.253-13T>G MANE Select	NP_000146.2:n.253-13T>G
NM_001258332.2:c.50+221T>G	NP_001245261.1:n.50+221T>G