Canonical Allele Identifier: CA5036056

Gene: GALT

Linked Data

• dbSNP Id: rs750212896
• ExAC: 9:34647380 C / T
• gnomAD v2: 9-34647380-C-T
• gnomAD v4: 9-34647383-C-T
• MyVariant Identifiers: chr9:g.34647380C>T (hg19) ; chr9:g.34647383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647383C>T , CM000671.2:g.34647383C>T	GRCh38
NC_000009.11:g.34647380C>T , CM000671.1:g.34647380C>T	GRCh37
NC_000009.10:g.34637380C>T	NCBI36
NG_009029.1:g.5746C>T
NG_028966.1:g.199C>T
NG_009029.2:g.5795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-109C>T	ENSP00000509954.1:n.253-109C>T
ENST00000378842.8:c.253-109C>T MANE Select	ENSP00000368119.4:n.253-109C>T
ENST00000378842.7:c.253-109C>T	ENSP00000368119.3:n.253-109C>T
ENST00000450095.6:c.50+125C>T	ENSP00000401956.2:n.50+125C>T
ENST00000465543.6:n.592-109C>T
ENST00000468099.2:n.417C>T
ENST00000472111.5:n.294-109C>T
ENST00000473506.6:c.252+125C>T	ENSP00000432839.2:n.252+125C>T
ENST00000473529.5:n.300-109C>T
ENST00000485531.1:n.370C>T
ENST00000487381.5:n.403C>T
ENST00000489643.6:n.282+125C>T
ENST00000554085.5:c.253-92C>T	ENSP00000450419.1:n.253-92C>T
ENST00000554139.5:n.306-109C>T
ENST00000554330.5:n.249+125C>T
ENST00000554550.5:c.252+125C>T	ENSP00000451435.1:n.252+125C>T
ENST00000554638.5:n.401C>T
ENST00000554897.5:c.252+125C>T	ENSP00000450942.1:n.252+125C>T
ENST00000554944.5:n.282+125C>T
ENST00000555020.5:n.283-109C>T
ENST00000555086.5:n.257-109C>T
ENST00000555214.5:n.261+125C>T
ENST00000556157.1:n.360-92C>T
ENST00000556244.1:c.137-6C>T
ENST00000556278.1:c.252+125C>T	ENSP00000451792.1:n.252+125C>T
ENST00000556403.5:n.266-109C>T
ENST00000556494.5:n.285-109C>T
ENST00000557541.5:n.445+125C>T
ENST00000557706.5:n.491C>T
NM_000155.3:c.253-109C>T	NP_000146.2:n.253-109C>T
NM_001258332.1:c.50+125C>T	NP_001245261.1:n.50+125C>T
NM_000155.4:c.253-109C>T MANE Select	NP_000146.2:n.253-109C>T
NM_001258332.2:c.50+125C>T	NP_001245261.1:n.50+125C>T