Canonical Allele Identifier: CA5036018

Gene: GALT

Linked Data

• ClinVar Variation Id: 255380
• ClinVar RCV Id: RCV000246639
• dbSNP Id: rs201156392
• ExAC: 9:34647040 G / C
• gnomAD v2: 9-34647040-G-C
• gnomAD v3: 9-34647043-G-C
• gnomAD v4: 9-34647043-G-C
• MyVariant Identifiers: chr9:g.34647040G>C (hg19) ; chr9:g.34647043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647043G>C , CM000671.2:g.34647043G>C	GRCh38
NC_000009.11:g.34647040G>C , CM000671.1:g.34647040G>C	GRCh37
NC_000009.10:g.34637040G>C	NCBI36
NG_009029.1:g.5406G>C
NG_009029.2:g.5455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.83-46G>C	ENSP00000509954.1:n.83-46G>C
ENST00000378842.8:c.83-46G>C MANE Select	ENSP00000368119.4:n.83-46G>C
ENST00000378842.7:c.83-46G>C	ENSP00000368119.3:n.83-46G>C
ENST00000450095.6:c.-120-46G>C	ENSP00000401956.2:n.-120-46G>C
ENST00000465543.6:n.376G>C
ENST00000468099.2:n.155-78G>C
ENST00000472111.5:n.124-46G>C
ENST00000473506.6:c.83-46G>C	ENSP00000432839.2:n.83-46G>C
ENST00000473529.5:n.130-46G>C
ENST00000485531.1:n.76-46G>C
ENST00000487381.5:n.109-46G>C
ENST00000489643.6:n.113-46G>C
ENST00000554085.5:c.83-46G>C	ENSP00000450419.1:n.83-46G>C
ENST00000554139.5:n.136-46G>C
ENST00000554330.5:n.80-46G>C
ENST00000554550.5:c.83-46G>C	ENSP00000451435.1:n.83-46G>C
ENST00000554638.5:n.107-46G>C
ENST00000554897.5:c.83-46G>C	ENSP00000450942.1:n.83-46G>C
ENST00000554944.5:n.113-46G>C
ENST00000555020.5:n.113-46G>C
ENST00000555086.5:n.87-46G>C
ENST00000555214.5:n.92-46G>C
ENST00000556157.1:n.144G>C
ENST00000556278.1:c.83-46G>C	ENSP00000451792.1:n.83-46G>C
ENST00000556403.5:n.96-46G>C
ENST00000556494.5:n.115-46G>C
ENST00000557541.5:n.276-46G>C
ENST00000557706.5:n.151G>C
ENST00000605275.1:n.575G>C
NM_000155.3:c.83-46G>C	NP_000146.2:n.83-46G>C
NM_001258332.1:c.-120-46G>C	NP_001245261.1:n.-120-46G>C
NM_000155.4:c.83-46G>C MANE Select	NP_000146.2:n.83-46G>C
NM_001258332.2:c.-120-46G>C	NP_001245261.1:n.-120-46G>C