Canonical Allele Identifier: CA373279243

Gene: GALT

Linked Data

• ClinVar Variation Id: 811178
• ClinVar RCV Id: RCV001000878
• dbSNP Id: rs111033669
• MyVariant Identifiers: chr9:g.34647526A>T (hg19) ; chr9:g.34647529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647529A>T , CM000671.2:g.34647529A>T	GRCh38
NC_000009.11:g.34647526A>T , CM000671.1:g.34647526A>T	GRCh37
NC_000009.10:g.34637526A>T	NCBI36
NG_009029.1:g.5892A>T
NG_028966.1:g.345A>T
NG_009029.2:g.5941A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.290A>T	ENSP00000509954.1:p.Asn97Ile
ENST00000378842.8:c.290A>T MANE Select	ENSP00000368119.4:p.Asn97Ile
ENST00000378842.7:c.290A>T	ENSP00000368119.3:p.Asn97Ile
ENST00000450095.6:c.50+271A>T	ENSP00000401956.2:n.50+271A>T
ENST00000465543.6:n.629A>T
ENST00000472111.5:n.331A>T
ENST00000473506.6:c.253-12A>T	ENSP00000432839.2:n.253-12A>T
ENST00000473529.5:n.337A>T
ENST00000485531.1:n.516A>T
ENST00000487381.5:n.549A>T
ENST00000489643.6:n.282+271A>T
ENST00000554085.5:c.*34A>T	ENSP00000450419.1:n.*34A>T
ENST00000554139.5:n.343A>T
ENST00000554330.5:n.250-12A>T
ENST00000554550.5:c.252+271A>T	ENSP00000451435.1:n.252+271A>T
ENST00000554638.5:n.547A>T
ENST00000554897.5:c.252+271A>T	ENSP00000450942.1:n.252+271A>T
ENST00000554944.5:n.283-12A>T
ENST00000555020.5:n.320A>T
ENST00000555086.5:n.294A>T
ENST00000555214.5:n.261+271A>T
ENST00000556157.1:n.414A>T
ENST00000556244.1:c.277A>T
ENST00000556278.1:c.252+271A>T	ENSP00000451792.1:n.252+271A>T
ENST00000556403.5:n.303A>T
ENST00000556494.5:n.322A>T
ENST00000557541.5:n.446-12A>T
ENST00000557706.5:n.637A>T
NM_000155.3:c.290A>T	NP_000146.2:p.Asn97Ile
NM_001258332.1:c.50+271A>T	NP_001245261.1:n.50+271A>T
NM_000155.4:c.290A>T MANE Select	NP_000146.2:p.Asn97Ile
NM_001258332.2:c.50+271A>T	NP_001245261.1:n.50+271A>T