Canonical Allele Identifier: CA7104808
Community Standard Title: NC_000014.9:g.22815695A>G
Gene: SLC7A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22815695A>G , CM000676.2:g.22815695A>G GRCh38
NC_000014.8:g.23284904A>G , CM000676.1:g.23284904A>G GRCh37
NC_000014.7:g.22354744A>G NCBI36
NG_012851.2:g.19126T>C , LRG_695:g.19126T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001126105.2:c.-175+136T>C , LRG_695t1:c.-175+136T>C NP_001119577.1:n.-175+136T>C
NM_001126105.3:c.-175+136T>C NP_001119577.1:n.-175+136T>C
NM_001126106.2:c.-174-244T>C , LRG_695t2:c.-174-244T>C NP_001119578.1:n.-174-244T>C
NM_001126106.4:c.-174-244T>C NP_001119578.1:n.-174-244T>C
NR_040448.1:n.198T>C
ENST00000285850.11:c.-180-244T>C ENSP00000285850.7:n.-180-244T>C
ENST00000397528.8:c.-175+136T>C ENSP00000380662.4:n.-175+136T>C
ENST00000397529.6:c.-42-2255T>C ENSP00000380663.2:n.-42-2255T>C
ENST00000397532.7:c.-418T>C ENSP00000380666.3:n.-418T>C
ENST00000397532.9:c.-418T>C ENSP00000380666.4:n.-418T>C
ENST00000488800.5:c.-174-244T>C ENSP00000421554.1:n.-174-244T>C
ENST00000553351.1:n.429-244T>C
ENST00000553632.1:n.347-244T>C
ENST00000553874.5:n.413-244T>C
ENST00000554517.5:c.-300+3943T>C ENSP00000452083.1:n.-300+3943T>C
ENST00000554741.5:c.-174-244T>C ENSP00000451063.1:n.-174-244T>C
ENST00000554758.1:c.-181+136T>C ENSP00000450671.1:n.-181+136T>C
ENST00000555702.5:c.-174-244T>C ENSP00000451881.1:n.-174-244T>C
ENST00000555911.2:c.-424T>C ENSP00000452551.2:n.-424T>C
ENST00000556287.5:c.-418T>C ENSP00000450715.1:n.-418T>C
ENST00000557129.5:c.-174-244T>C ENSP00000450729.1:n.-174-244T>C
ENST00000557629.5:c.-174-244T>C ENSP00000450495.1:n.-174-244T>C
ENST00000698939.1:c.-180-244T>C ENSP00000514047.1:n.-180-244T>C
XM_006720302.1:c.-180-244T>C XP_006720365.1:n.-180-244T>C
XM_006720302.2:c.-180-244T>C XP_006720365.1:n.-180-244T>C
XM_011537298.1:c.-424T>C XP_011535600.1:n.-424T>C
XM_011537299.1:c.-42-2255T>C XP_011535601.1:n.-42-2255T>C