Canonical Allele Identifier: CA4277352

Gene: ASL

Linked Data

• ClinVar Variation Id: 2731459
• ClinVar RCV Id: RCV003499809
• dbSNP Id: rs770220569
• ExAC: 7:65557668 C / T
• gnomAD v2: 7-65557668-C-T
• gnomAD v3: 7-66092681-C-T
• gnomAD v4: 7-66092681-C-T
• MyVariant Identifiers: chr7:g.65557668C>T (hg19) ; chr7:g.66092681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092681C>T , CM000669.2:g.66092681C>T	GRCh38
NC_000007.13:g.65557668C>T , CM000669.1:g.65557668C>T	GRCh37
NC_000007.12:g.65195103C>T	NCBI36
NG_009288.1:g.21893C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1250+18C>T MANE Select	ENSP00000307188.9:n.1250+18C>T
ENST00000362000.10:c.1055+18C>T	ENSP00000354710.6:n.1055+18C>T
ENST00000380839.9:c.1172+18C>T	ENSP00000370219.4:n.1172+18C>T
ENST00000395331.4:c.1190+18C>T	ENSP00000378740.3:n.1190+18C>T
ENST00000395332.8:c.1250+18C>T	ENSP00000378741.3:n.1250+18C>T
ENST00000488343.2:c.148-223C>T	ENSP00000500864.1:n.148-223C>T
ENST00000672498.1:c.*567C>T	ENSP00000500227.1:n.*567C>T
ENST00000672586.1:n.2009+18C>T
ENST00000672676.1:n.2274+18C>T
ENST00000673149.1:n.1062+18C>T
ENST00000673350.1:n.3367+18C>T
ENST00000673518.1:c.1172+18C>T	ENSP00000499889.1:n.1172+18C>T
ENST00000304874.13:c.1250+18C>T	ENSP00000307188.9:n.1250+18C>T
ENST00000380839.8:c.1172+18C>T	ENSP00000370219.4:n.1172+18C>T
ENST00000395331.3:c.1190+18C>T	ENSP00000378740.3:n.1190+18C>T
ENST00000395332.7:c.1250+18C>T	ENSP00000378741.3:n.1250+18C>T
ENST00000450043.2:c.563+18C>T	ENSP00000396527.2:n.563+18C>T
ENST00000464970.1:n.453+18C>T
ENST00000488343.1:n.148-223C>T
ENST00000493708.5:n.731+18C>T
NM_000048.3:c.1250+18C>T	NP_000039.2:n.1250+18C>T
NM_001024943.1:c.1250+18C>T	NP_001020114.1:n.1250+18C>T
NM_001024944.1:c.1190+18C>T	NP_001020115.1:n.1190+18C>T
NM_001024946.1:c.1172+18C>T	NP_001020117.1:n.1172+18C>T
NM_000048.4:c.1250+18C>T MANE Select	NP_000039.2:n.1250+18C>T
NM_001024943.2:c.1250+18C>T	NP_001020114.1:n.1250+18C>T
NM_001024944.2:c.1190+18C>T	NP_001020115.1:n.1190+18C>T
NM_001024946.2:c.1172+18C>T	NP_001020117.1:n.1172+18C>T