Canonical Allele Identifier: CA192669638

Gene: GALT

Linked Data

• ClinVar Variation Id: 632831
• ClinVar RCV Id: RCV000780281
• dbSNP Id: rs184214383
• gnomAD v2: 9-34647757-T-C
• gnomAD v3: 9-34647760-T-C
• gnomAD v4: 9-34647760-T-C
• MyVariant Identifiers: chr9:g.34647757T>C (hg19) ; chr9:g.34647760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647760T>C , CM000671.2:g.34647760T>C	GRCh38
NC_000009.11:g.34647757T>C , CM000671.1:g.34647757T>C	GRCh37
NC_000009.10:g.34637757T>C	NCBI36
NG_009029.1:g.6123T>C
NG_028966.1:g.576T>C
NG_009029.2:g.6172T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-72T>C	ENSP00000509954.1:n.329-72T>C
ENST00000378842.8:c.377+55T>C MANE Select	ENSP00000368119.4:n.377+55T>C
ENST00000378842.7:c.377+55T>C	ENSP00000368119.3:n.377+55T>C
ENST00000450095.6:c.51-72T>C	ENSP00000401956.2:n.51-72T>C
ENST00000465543.6:n.716+55T>C
ENST00000472111.5:n.562T>C
ENST00000473506.6:c.328+55T>C	ENSP00000432839.2:n.328+55T>C
ENST00000473529.5:n.513+55T>C
ENST00000485531.1:n.747T>C
ENST00000487381.5:n.691T>C
ENST00000489643.6:n.283-355T>C
ENST00000554085.5:c.*121+55T>C	ENSP00000450419.1:n.*121+55T>C
ENST00000554139.5:n.485T>C
ENST00000554330.5:n.469T>C
ENST00000554550.5:c.253-72T>C	ENSP00000451435.1:n.253-72T>C
ENST00000554638.5:n.778T>C
ENST00000554897.5:c.253-72T>C	ENSP00000450942.1:n.253-72T>C
ENST00000554944.5:n.502T>C
ENST00000555020.5:n.462T>C
ENST00000555086.5:n.381+55T>C
ENST00000555214.5:n.262-288T>C
ENST00000556157.1:n.556T>C
ENST00000556244.1:c.364+55T>C
ENST00000556278.1:c.253-355T>C	ENSP00000451792.1:n.253-355T>C
ENST00000556403.5:n.534T>C
ENST00000556494.5:n.498+55T>C
ENST00000557541.5:n.521+55T>C
ENST00000557706.5:n.868T>C
NM_000155.3:c.377+55T>C	NP_000146.2:n.377+55T>C
NM_001258332.1:c.51-72T>C	NP_001245261.1:n.51-72T>C
NM_000155.4:c.377+55T>C MANE Select	NP_000146.2:n.377+55T>C
NM_001258332.2:c.51-72T>C	NP_001245261.1:n.51-72T>C