Canonical Allele Identifier: CA4277127

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088855T>C , CM000669.2:g.66088855T>C	GRCh38
NC_000007.13:g.65553842T>C , CM000669.1:g.65553842T>C	GRCh37
NC_000007.12:g.65191277T>C	NCBI36
NG_009288.1:g.18067T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.767T>C MANE Select	NP_000039.2:p.Met256Thr
ENST00000304874.14:c.767T>C MANE Select	ENSP00000307188.9:p.Met256Thr
NM_000048.3:c.767T>C	NP_000039.2:p.Met256Thr
NM_001024943.1:c.767T>C	NP_001020114.1:p.Met256Thr
NM_001024943.2:c.767T>C	NP_001020114.1:p.Met256Thr
NM_001024944.1:c.767T>C	NP_001020115.1:p.Met256Thr
NM_001024944.2:c.767T>C	NP_001020115.1:p.Met256Thr
NM_001024946.1:c.689T>C	NP_001020117.1:p.Met230Thr
NM_001024946.2:c.689T>C	NP_001020117.1:p.Met230Thr
ENST00000304874.13:c.767T>C	ENSP00000307188.9:p.Met256Thr
ENST00000362000.10:c.572T>C	ENSP00000354710.6:p.Met191Thr
ENST00000362000.9:c.572T>C	ENSP00000354710.5:p.Met191Thr
ENST00000380839.8:c.689T>C	ENSP00000370219.4:p.Met230Thr
ENST00000380839.9:c.689T>C	ENSP00000370219.4:p.Met230Thr
ENST00000395331.3:c.767T>C	ENSP00000378740.3:p.Met256Thr
ENST00000395331.4:c.767T>C	ENSP00000378740.3:p.Met256Thr
ENST00000395332.7:c.767T>C	ENSP00000378741.3:p.Met256Thr
ENST00000395332.8:c.767T>C	ENSP00000378741.3:p.Met256Thr
ENST00000450043.2:c.80T>C	ENSP00000396527.2:p.Met27Thr
ENST00000493708.5:n.148T>C
ENST00000671817.1:c.689T>C	ENSP00000500462.1:p.Met230Thr
ENST00000672498.1:c.*66T>C	ENSP00000500227.1:n.*66T>C
ENST00000672586.1:n.1526T>C
ENST00000672676.1:n.1791T>C
ENST00000673149.1:n.579T>C
ENST00000673350.1:n.2884T>C
ENST00000673518.1:c.689T>C	ENSP00000499889.1:p.Met230Thr