Canonical Allele Identifier: CA863494953

Gene: GALT

Linked Data

• ClinVar Variation Id: 1965820
• ClinVar RCV Id: RCV002711396
• dbSNP Id: rs1336113634
• gnomAD v3: 9-34647472-TA-T
• gnomAD v4: 9-34647472-TA-T
• MyVariant Identifiers: chr9:g.34647470del (hg19) ; chr9:g.34647473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647473del , CM000671.2:g.34647473del	GRCh38
NC_000009.11:g.34647470del , CM000671.1:g.34647470del	GRCh37
NC_000009.10:g.34637470del	NCBI36
NG_009029.1:g.5836del
NG_028966.1:g.289del
NG_009029.2:g.5885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-19del	ENSP00000509954.1:n.253-19del
ENST00000378842.8:c.253-19del MANE Select	ENSP00000368119.4:n.253-19del
ENST00000378842.7:c.253-19del	ENSP00000368119.3:n.253-19del
ENST00000450095.6:c.50+215del	ENSP00000401956.2:n.50+215del
ENST00000465543.6:n.592-19del
ENST00000468099.2:n.507del
ENST00000472111.5:n.294-19del
ENST00000473506.6:c.253-68del	ENSP00000432839.2:n.253-68del
ENST00000473529.5:n.300-19del
ENST00000485531.1:n.460del
ENST00000487381.5:n.493del
ENST00000489643.6:n.282+215del
ENST00000554085.5:c.253-2del	ENSP00000450419.1:n.253-2del
ENST00000554139.5:n.306-19del
ENST00000554330.5:n.250-68del
ENST00000554550.5:c.252+215del	ENSP00000451435.1:n.252+215del
ENST00000554638.5:n.491del
ENST00000554897.5:c.252+215del	ENSP00000450942.1:n.252+215del
ENST00000554944.5:n.283-68del
ENST00000555020.5:n.283-19del
ENST00000555086.5:n.257-19del
ENST00000555214.5:n.261+215del
ENST00000556157.1:n.360-2del
ENST00000556244.1:c.221del
ENST00000556278.1:c.252+215del	ENSP00000451792.1:n.252+215del
ENST00000556403.5:n.266-19del
ENST00000556494.5:n.285-19del
ENST00000557541.5:n.446-68del
ENST00000557706.5:n.581del
NM_000155.3:c.253-19del	NP_000146.2:n.253-19del
NM_001258332.1:c.50+215del	NP_001245261.1:n.50+215del
NM_000155.4:c.253-19del MANE Select	NP_000146.2:n.253-19del
NM_001258332.2:c.50+215del	NP_001245261.1:n.50+215del