Canonical Allele Identifier: CA841274372

Gene: ASL

Linked Data

• dbSNP Id: rs1023189991
• gnomAD v4: 7-66092483-G-T
• MyVariant Identifiers: chr7:g.65557470G>T (hg19) ; chr7:g.66092483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092483G>T , CM000669.2:g.66092483G>T	GRCh38
NC_000007.13:g.65557470G>T , CM000669.1:g.65557470G>T	GRCh37
NC_000007.12:g.65194905G>T	NCBI36
NG_009288.1:g.21695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1144-74G>T MANE Select	ENSP00000307188.9:n.1144-74G>T
ENST00000362000.10:c.949-74G>T	ENSP00000354710.6:n.949-74G>T
ENST00000380839.9:c.1066-74G>T	ENSP00000370219.4:n.1066-74G>T
ENST00000395331.4:c.1084-74G>T	ENSP00000378740.3:n.1084-74G>T
ENST00000395332.8:c.1144-74G>T	ENSP00000378741.3:n.1144-74G>T
ENST00000488343.2:c.148-421G>T	ENSP00000500864.1:n.148-421G>T
ENST00000672498.1:c.*443-74G>T	ENSP00000500227.1:n.*443-74G>T
ENST00000672586.1:n.1903-74G>T
ENST00000672676.1:n.2168-74G>T
ENST00000673149.1:n.956-74G>T
ENST00000673350.1:n.3261-74G>T
ENST00000673518.1:c.1066-74G>T	ENSP00000499889.1:n.1066-74G>T
ENST00000304874.13:c.1144-74G>T	ENSP00000307188.9:n.1144-74G>T
ENST00000380839.8:c.1066-74G>T	ENSP00000370219.4:n.1066-74G>T
ENST00000395331.3:c.1084-74G>T	ENSP00000378740.3:n.1084-74G>T
ENST00000395332.7:c.1144-74G>T	ENSP00000378741.3:n.1144-74G>T
ENST00000450043.2:c.457-74G>T	ENSP00000396527.2:n.457-74G>T
ENST00000464970.1:n.347-74G>T
ENST00000488343.1:n.148-421G>T
ENST00000493708.5:n.625-74G>T
NM_000048.3:c.1144-74G>T	NP_000039.2:n.1144-74G>T
NM_001024943.1:c.1144-74G>T	NP_001020114.1:n.1144-74G>T
NM_001024944.1:c.1084-74G>T	NP_001020115.1:n.1084-74G>T
NM_001024946.1:c.1066-74G>T	NP_001020117.1:n.1066-74G>T
NM_000048.4:c.1144-74G>T MANE Select	NP_000039.2:n.1144-74G>T
NM_001024943.2:c.1144-74G>T	NP_001020114.1:n.1144-74G>T
NM_001024944.2:c.1084-74G>T	NP_001020115.1:n.1084-74G>T
NM_001024946.2:c.1066-74G>T	NP_001020117.1:n.1066-74G>T