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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219418465G>A , CM000664.2:g.219418465G>A
GRCh38
NC_000002.11:g.220283187G>A , CM000664.1:g.220283187G>A
GRCh37
NC_000002.10:g.219991431G>A
NCBI36
NG_008043.1:g.5089G>A , LRG_380:g.5089G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000373960.4:c.3G>A
MANE Select
ENSP00000363071.3:p.Met1Ile
ENST00000373960.3:c.3G>A
ENSP00000363071.3:p.Met1Ile
NM_001927.3:c.3G>A , LRG_380t1:c.3G>A
NP_001918.3:p.Met1Ile
NM_001927.4:c.3G>A
MANE Select
NP_001918.3:p.Met1Ile
NM_001382708.1:c.3G>A
NP_001369637.1:p.Met1Ile
NM_001382709.1:c.3G>A
NP_001369638.1:p.Met1Ile
NM_001382710.1:c.3G>A
NP_001369639.1:p.Met1Ile
NM_001382711.1:c.3G>A
NP_001369640.1:p.Met1Ile
NM_001382712.1:c.3G>A
NP_001369641.1:p.Met1Ile
NM_001382713.1:c.3G>A
NP_001369642.1:p.Met1Ile