Canonical Allele Identifier: CA10576340

Gene: ASL

Linked Data

• ClinVar Variation Id: 226414
• ClinVar RCV Id: RCV000211672
• dbSNP Id: rs875989948
• gnomAD v4: 7-66092022-T-C
• MyVariant Identifiers: chr7:g.65557009T>C (hg19) ; chr7:g.66092022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092022T>C , CM000669.2:g.66092022T>C	GRCh38
NC_000007.13:g.65557009T>C , CM000669.1:g.65557009T>C	GRCh37
NC_000007.12:g.65194444T>C	NCBI36
NG_009288.1:g.21234T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1079T>C MANE Select	ENSP00000307188.9:p.Met360Thr
ENST00000362000.10:c.884T>C	ENSP00000354710.6:p.Met295Thr
ENST00000380839.9:c.1001T>C	ENSP00000370219.4:p.Met334Thr
ENST00000395331.4:c.1019T>C	ENSP00000378740.3:p.Met340Thr
ENST00000395332.8:c.1079T>C	ENSP00000378741.3:p.Met360Thr
ENST00000488343.2:c.148-882T>C	ENSP00000500864.1:n.148-882T>C
ENST00000671817.1:c.1001T>C	ENSP00000500462.1:p.Met334Thr
ENST00000672498.1:c.*378T>C	ENSP00000500227.1:n.*378T>C
ENST00000672586.1:n.1838T>C
ENST00000672676.1:n.2103T>C
ENST00000673149.1:n.891T>C
ENST00000673350.1:n.3196T>C
ENST00000673518.1:c.1001T>C	ENSP00000499889.1:p.Met334Thr
ENST00000304874.13:c.1079T>C	ENSP00000307188.9:p.Met360Thr
ENST00000380839.8:c.1001T>C	ENSP00000370219.4:p.Met334Thr
ENST00000395331.3:c.1019T>C	ENSP00000378740.3:p.Met340Thr
ENST00000395332.7:c.1079T>C	ENSP00000378741.3:p.Met360Thr
ENST00000450043.2:c.392T>C	ENSP00000396527.2:p.Met131Thr
ENST00000464970.1:n.282T>C
ENST00000488343.1:n.148-882T>C
ENST00000493708.5:n.560T>C
NM_000048.3:c.1079T>C	NP_000039.2:p.Met360Thr
NM_001024943.1:c.1079T>C	NP_001020114.1:p.Met360Thr
NM_001024944.1:c.1019T>C	NP_001020115.1:p.Met340Thr
NM_001024946.1:c.1001T>C	NP_001020117.1:p.Met334Thr
NM_000048.4:c.1079T>C MANE Select	NP_000039.2:p.Met360Thr
NM_001024943.2:c.1079T>C	NP_001020114.1:p.Met360Thr
NM_001024944.2:c.1019T>C	NP_001020115.1:p.Met340Thr
NM_001024946.2:c.1001T>C	NP_001020117.1:p.Met334Thr